A comparison of contrast sensitivity and sweep visual evoked potential (sVEP) acuity estimates in normal humans
ConclusionsSimilar to previous publications, the sVEP acuity estimate was less than the optotype chart acuity. The acuity determined with the sVEP and the CSFs with letter and grating stimuli were not statistically different, suggesting that the difference in acuity with the sVEP and optotype charts does not result from stimulus differences. Other methodological differences must account for the discrepancy in sVEP and optotype chart acuity. (Source: Documenta Ophthalmologica)
Source: Documenta Ophthalmologica - August 14, 2019 Category: Opthalmology Source Type: research

Two cases of unilateral cone-rod dysfunction with negative electroretinograms
ConclusionsNegative ERGs with severely reduced cone and rod components suggest that both the cone and rod bipolar cell visual pathways may be disturbed. Slightly decreased a-wave suggests minor abnormality of photoreceptors. It is important to determine whether these patients represent a new clinical entity or a phenotypic variation of an already described retinal disorder. (Source: Documenta Ophthalmologica)
Source: Documenta Ophthalmologica - August 2, 2019 Category: Opthalmology Source Type: research

Using sellar region tumor ’s size as a predictor of psychophysical and electrophysiological perimetric visual losses: a logistic regression approach
ConclusionTumor size as a predictor of visual loss has potential to assist in the clinical intervention and to prevent the irreversible visual impairment caused by tumors of the sellar region. (Source: Documenta Ophthalmologica)
Source: Documenta Ophthalmologica - July 23, 2019 Category: Opthalmology Source Type: research

Multifocal electroretinogram in eyes with intravitreal silicone oil and changes following silicone oil removal
ConclusionmfERG may be reliably performed for the assessment of macular function in SO-filled eyes. Intravitreal SO exerts an insulating effect on the density of the electric potentials. (Source: Documenta Ophthalmologica)
Source: Documenta Ophthalmologica - July 20, 2019 Category: Opthalmology Source Type: research

Test –retest repeatability of the pattern electroretinogram and flicker electroretinogram
AbstractPurposeTo evaluate the repeatability of the steady-state pattern electroretinogram (PERG) and full-field flicker electroretinogram (Flicker ERG) protocols, delivered by the office-based Neuro Optic Vision Assessment (NOVA) ™ testing platform, in healthy subjects.MethodsHealthy individuals underwent PERG (16 ° and 24°) and Flicker ERG [fixed luminance (FL) and multi-luminance (ML)] testing protocols. Test–retest repeatability of protocols was calculated using intra-class correlation coefficients (ICC). Reference values of the parameters of the aforementioned tests were also calculated.ResultsThe ...
Source: Documenta Ophthalmologica - July 16, 2019 Category: Opthalmology Source Type: research

Novel findings in enhanced S-cone syndrome: a case with macular retinal neovascularization and severe retinal vasculitis
ConclusionThis case highlights novel associations of retinal neovascularization and vasculitis with ESCS. (Source: Documenta Ophthalmologica)
Source: Documenta Ophthalmologica - July 10, 2019 Category: Opthalmology Source Type: research

Electrophysiological findings in delayed discovery of a metallic intraocular foreign body in a child: case report
ConclusionIn this young girl perforating ocular trauma with metallic material was lately diagnosed with strabismus as a sign of alert. Prompt surgical intervention and proper management were essential to provide reasonable visual function including some degree of stereopsis, even though retinal dysfunction characterized by ERG was persistent. (Source: Documenta Ophthalmologica)
Source: Documenta Ophthalmologica - July 8, 2019 Category: Opthalmology Source Type: research

Late-onset night blindness with peripheral flecks accompanied by progressive trickle-like macular degeneration
ConclusionsThe six cases had some common features with the flecked retina syndrome, familial drusen, and late-onset retinal degeneration although none had pathogenic variants causative for these disorders. These cases may represent a subset of severe trickling AMD or a new clinical entity of acquired pan-retinal visual cycle deficiency of unknown etiology. (Source: Documenta Ophthalmologica)
Source: Documenta Ophthalmologica - July 8, 2019 Category: Opthalmology Source Type: research

Full-field electroretinography, visual acuity and visual fields in Usher syndrome: a multicentre European study
AbstractPurposeUsher syndrome (USH) is a multisensory deficiency involving vision, hearing and the vestibular system. The purpose of this study is to report on the functional data (i.e. electroretinography, visual fields, visual acuity) of patients with retinitis pigmentosa (RP) due to Usher syndrome that were collected in a multicentre European study (TREATRUSH).MethodsA total of 268 genetically confirmed USH patients underwent electrophysiological examinations in the context of multimodal ophthalmological examination in the study (75 USH1, 189 USH2 and four USH3). Full-field electroretinography (ERG) was performed accord...
Source: Documenta Ophthalmologica - July 2, 2019 Category: Opthalmology Source Type: research

Central and peripheral steady-state visual evoked potentials in children with optic pathway gliomas
ConclusionSteady-state visual evoked potentials could eventually be implemented in the clinical assessment and follow-up of central visual field deficits in uncooperative or nonverbal children but seem to have limited usefulness for evaluation of peripheral visual field deficits. Additional studies are needed to identify testing parameters for full visual field assessment. (Source: Documenta Ophthalmologica)
Source: Documenta Ophthalmologica - June 26, 2019 Category: Opthalmology Source Type: research

Objective and quantitative assessment of visual acuity and contrast sensitivity based on steady-state motion visual evoked potentials using concentric-ring paradigm
ConclusionOur study proved that SSMVEPs can be an objective and quantitative method to measure visual acuity and contrast sensitivity. (Source: Documenta Ophthalmologica)
Source: Documenta Ophthalmologica - June 18, 2019 Category: Opthalmology Source Type: research

Acuity VEP: improved with machine learning
ConclusionsThe ML approach appears to be a useful alternative to rule-based analysis of acuity-VEP data. The achieved accuracy is comparable or better (in no case the ML-based acuity differed more than  ± 0.29 LogMAR from behavioral acuity), and testability is higher, nearly 100%. Possible pitfalls are examined. (Source: Documenta Ophthalmologica)
Source: Documenta Ophthalmologica - June 11, 2019 Category: Opthalmology Source Type: research

Can VEP-based acuity estimates in one eye be improved by applying knowledge from the other eye?
ConclusionsKnowledge about the discrepancy between objective and subjective acuity values in one eye does not help improving the accuracy of acuity estimates in the other eye. The lack of a significant correlation between eyes even at the same acuity level suggests that a major part of the discrepancies between subjective acuity and VEP-based acuity is not the result of factors that would equally apply to both eyes, such as cortical morphology. (Source: Documenta Ophthalmologica)
Source: Documenta Ophthalmologica - June 3, 2019 Category: Opthalmology Source Type: research

Electrophysiological and pupillometric measures of inner retina function in nonproliferative diabetic retinopathy
AbstractPurposeTo evaluate three measures of inner retina function, the pattern electroretinogram (pERG), the photopic negative response (PhNR), and the post-illumination pupil response (PIPR) in diabetics with and without nonproliferative diabetic retinopathy (NPDR).MethodsFifteen non-diabetic control subjects and 45 type 2 diabetic subjects participated (15 have no clinically apparent retinopathy [NDR], 15 have mild NPDR, and 15 have moderate/severe NPDR). The pERG was elicited by a contrast-reversing checkerboard pattern, and the PhNR was measured in response to a full-field, long-wavelength flash presented against a sh...
Source: Documenta Ophthalmologica - April 23, 2019 Category: Opthalmology Source Type: research

A case of X-linked retinoschisis with atypical fundus appearance
ConclusionWe present a case of atypical retinoschisis with clinical findings of retinitis pigmentosa. (Source: Documenta Ophthalmologica)
Source: Documenta Ophthalmologica - April 20, 2019 Category: Opthalmology Source Type: research

Visual evoked and event-related brain potentials in HIV-infected adults: a longitudinal study over 2.5  years
ConclusionOur aim was to evaluate whether antiretroviral treatment in HIV+ patients is sufficient to preserve brain visual function. The optic nerve and primary visual cortex function tested by the P-VEPs seem to be preserved. The prolongation of the M-VEPs suggests an individually detectable decline in CNS function, but these changes did not show a progression during the follow-up. From a longitudinal perspective, the trends in peak time prolongation of the 20 ′ P-VEP, peripheral M-VEP, ERP and reaction time suggest a faster decline than that caused by aging in healthy populations, as previously described in a cross...
Source: Documenta Ophthalmologica - April 16, 2019 Category: Opthalmology Source Type: research

Macular function following intravitreal ranibizumab for macular edema associated with branch retinal vein occlusion
AbstractPurposeTo determine the physiology of the macula by the focal macular electroretinograms (fmERGs) in patients with branch retinal vein occlusion with macular edema (BRVOME) treated by intravitreal injections of ranibizumab (IVR).MethodsWe studied 17 eyes of 17 patients with BRVOME. The contralateral unaffected eyes served as controls. All patients were treated with an IVR at monthly intervals for 3 consecutive months. The baseline best-corrected visual acuity (BCVA), optical coherence tomographic (OCT) findings, and fmERGs were compared to the post-treatment values. The fmERGs were elicited by a 15 ° circular s...
Source: Documenta Ophthalmologica - April 12, 2019 Category: Opthalmology Source Type: research

Flicker electroretinogram recorded with portable ERG device in prematurely born schoolchildren with and without ROP
ConclusionsPrematurely born schoolchildren exhibit longer implicit time of the 30-Hz flicker ERG response compared to controls, suggesting a possible abnormality of the retinal cone system function. Under such circumstances, portable ERG device might be used clinically as a screening tool for retinal function evaluation in prematurely born children. (Source: Documenta Ophthalmologica)
Source: Documenta Ophthalmologica - April 11, 2019 Category: Opthalmology Source Type: research

Retinal dystrophies with bull ’s-eye maculopathy along with negative ERGs
ConclusionsThe five patients with bull ’s-eye maculopathy along with a negative ERG had differing genotypes. Mutations were found in theCRX gene (2 patients), theABCA4 gene (1 patient), and theGUCY2D gene (2 patients). (Source: Documenta Ophthalmologica)
Source: Documenta Ophthalmologica - April 3, 2019 Category: Opthalmology Source Type: research

Adaptation time, electroretinography, and pupillography in healthy subjects
ConclusionsCone-driven ERG can be recorded, even in 5  min of light adaptation time without any special light condition, whereas rod-driven ERG and pupillary response results can be obtained in 10 min or longer of dark adaptation time in complete darkness. (Source: Documenta Ophthalmologica)
Source: Documenta Ophthalmologica - April 1, 2019 Category: Opthalmology Source Type: research

ISCEV extended protocol for the stimulus –response series for the dark-adapted full-field ERG b-wave
AbstractThe International Society for Clinical Electrophysiology of Vision (ISCEV) standard for full-field electroretinography (ERG) describes a minimum protocol for clinical testing but encourages more extensive testing where appropriate. This ISCEV extended protocol describes an extension of the ISCEV full-field ERG standard, in which methods to record and evaluate the growth of the dark-adapted (DA) ERG b-wave with increasing stimulus energy are described. The flashes span a range that includes the weakest flash required to generate a reliable DA ERG b-wave and that required to generate a maximal b-wave amplitude. The D...
Source: Documenta Ophthalmologica - March 30, 2019 Category: Opthalmology Source Type: research

ISCEV extended protocol for the stimulus –response series for light-adapted full-field ERG
AbstractThe International Society for Clinical Electrophysiology of Vision (ISCEV) standard for full-field electroretinography (ERG) describes a minimum protocol for clinical testing but encourages additional ERG testing when appropriate. This ISCEV extended protocol describes methods to record and evaluate a light-adapted (LA) ERG stimulus –response series with increasing flash strengths. The LA ERG stimulus–response series (also referred to as the luminance–response or intensity–response series in the published literature) can characterise generalised cone system function more comprehensively than...
Source: Documenta Ophthalmologica - March 30, 2019 Category: Opthalmology Source Type: research

Reply to: Diagnosing MELAS requires not only an mtDNA variant but also an appropriate phenotype
(Source: Documenta Ophthalmologica)
Source: Documenta Ophthalmologica - March 30, 2019 Category: Opthalmology Source Type: research

Two-color pupillometry in KCNV2 retinopathy
ConclusionsThe abnormalities measured by pupillometry have a similar pattern to the outer-retinal abnormalities measured by ERG inKCNV2 retinopathy. These findings as well as the normal sustained PLR suggest that inner-retinal function may be preserved inKCNV2 retinopathy and highlight the potential for therapies designed to restore outer-retinal function in these individuals. (Source: Documenta Ophthalmologica)
Source: Documenta Ophthalmologica - March 29, 2019 Category: Opthalmology Source Type: research

Correlation between electroretinography, foveal anatomy and visual acuity in albinism
This study correlates retinal electrophysiology, visual acuity and optical coherence tomography (OCT) anatomy in albinism patients and compares with age-similar controls.MethodsInstitutional Review Board approval was obtained (IRB# 201408782). Patients were recruited from clinical practice. Inclusion criteria were at least three clinical features of albinism including iris transillumination, nystagmus, fundus hypopigmentation, or foveal hypoplasia on OCT and/or molecular genetic confirmation. Diagnosys (Lowell, Mass) full-field ERG (ffERG) and VERIS multifocal ERG (mfERG; Electro-Diagnostic Imaging, Milpitas, California) w...
Source: Documenta Ophthalmologica - March 29, 2019 Category: Opthalmology Source Type: research

Clinical diagnosis in the era of DNA testing
(Source: Documenta Ophthalmologica)
Source: Documenta Ophthalmologica - March 28, 2019 Category: Opthalmology Source Type: research

Diagnosing MELAS requires not only an mtDNA variant but also an appropriate phenotype
(Source: Documenta Ophthalmologica)
Source: Documenta Ophthalmologica - March 28, 2019 Category: Opthalmology Source Type: research

Comparison of electroretinographic measurements between tabletop and handheld stimulators in healthy subjects
ConclusionDespite the significantly lower ERG amplitude measurements recorded by the handheld stimulator, there were no significant differences in variability between the two stimulators. (Source: Documenta Ophthalmologica)
Source: Documenta Ophthalmologica - March 18, 2019 Category: Opthalmology Source Type: research

Novel biallelic loss-of-function KCNV2 variants in cone dystrophy with supernormal rod responses
ConclusionsBiallelic loss-of-functionKCNV2 variants (p.W67X and p.D174GfsX198) were identified as the cause of CDSRR. Long-term FF-ERG findings demonstrated there were no ERG changes during 15  years of observation, indicating that there was no evidence of progressive peripheral retinal dysfunction, in spite of worsening macular atrophy. (Source: Documenta Ophthalmologica)
Source: Documenta Ophthalmologica - March 15, 2019 Category: Opthalmology Source Type: research

The effects of bandpass filtering on the oscillatory potentials of the electroretinogram
ConclusionOur results vividly demonstrate the need to better define the characteristics of the filter that is used to record the OPs as it does have a significant impact on the resulting waveform. (Source: Documenta Ophthalmologica)
Source: Documenta Ophthalmologica - March 7, 2019 Category: Opthalmology Source Type: research

Semi-invasive and non-invasive recording of visual evoked potentials in mice
ConclusionsThese results demonstrate the reliability of semi- and non-invasive VEP recordings, which can be useful to evaluate murine models of neurological diseases. (Source: Documenta Ophthalmologica)
Source: Documenta Ophthalmologica - March 6, 2019 Category: Opthalmology Source Type: research

Hand-held, dilation-free, electroretinography in children under 3 years of age treated with vigabatrin
ConclusionThis is the first study to assess the utility of RETeval ™ device in children under 3 years of age undergoing vigabatrin treatment. RETeval™ demonstrated high intra-visit reliability with responses consistent with the standard Espion ERG. RETeval™ may be beneficial for assessment of retinal toxicity in young children treated with vigabatrin. (Source: Documenta Ophthalmologica)
Source: Documenta Ophthalmologica - March 2, 2019 Category: Opthalmology Source Type: research

Cockayne syndrome in adults: complete retinal dysfunction exploration of two case reports
ConclusionsPigmentary retinopathy in CS could translate a wide dysfunction of the retina with major affection of external retinal layers of both cone and rod cells. Macular implication is also present and could explain progressive vision loss in such cases. (Source: Documenta Ophthalmologica)
Source: Documenta Ophthalmologica - February 28, 2019 Category: Opthalmology Source Type: research

Corosolic acid: antiangiogenic activity and safety of intravitreal injection in rats eyes
ConclusionsCA was effective in reducing vascularity in a CAM model and was found to be safe for potential ophthalmic use. (Source: Documenta Ophthalmologica)
Source: Documenta Ophthalmologica - February 26, 2019 Category: Opthalmology Source Type: research

Unanticipated prognosis for a patient with type 2 Usher syndrome
ConclusionsThe patient demonstrated that the absence of visual symptoms and favorable findings on functional testing on initial presentation might yet belie a future for austere visual loss. Caution is thus warranted when predicting a visual prognosis in such a patient. Further, the value in electroretinographic testing for diagnosis is demonstrated. (Source: Documenta Ophthalmologica)
Source: Documenta Ophthalmologica - February 22, 2019 Category: Opthalmology Source Type: research

Fisetin rescues retinal functions by suppressing inflammatory response in a DBA/2J mouse model of glaucoma
ConclusionIn conclusion, fisetin is able to promote the visual functions of DBA/2J mice by inhibiting NF- κB activation. (Source: Documenta Ophthalmologica)
Source: Documenta Ophthalmologica - February 11, 2019 Category: Opthalmology Source Type: research

Evaluation of early changes of macular function and morphology by multifocal electroretinograms in patients with nasopharyngeal carcinoma after radiotherapy
AbstractObjectiveTo assess the role of multifocal electroretinograms (mfERGs) and optical coherence tomography (OCT) for detecting early changes in macular functions of patients with nasopharyngeal carcinoma (NPC) after radiotherapy.MethodsmfERGs and OCT were used to examine a NPC group (36 NPC patients after radiotherapy without clinically visible radiation retinopathy, 36 eyes) and a normal control group (25 healthy individuals, 25 eyes) with the same procedure and parameters. The two groups of mfERG were summarized by calculating ring averages, response density, N1 amplitude and P1 and N1 latencies were analysed. OCT sc...
Source: Documenta Ophthalmologica - February 9, 2019 Category: Opthalmology Source Type: research

Hypotrichosis with cone-rod dystrophy in a patient with cadherin 3 (CDH3) mutation
ConclusionThis case shows that aCDH3 mutation besides macula dystrophy can cause widespread cone-rod dystrophy with hypotrichosis without any other pathology besides hypoplastic nails. This points to a common pathway of hair growth and photoreceptor development that can be disturbed by aCDH3 mutation (c.1508G>A; p.Arg503His) located in the EC4 repeat region of the gene. (Source: Documenta Ophthalmologica)
Source: Documenta Ophthalmologica - February 1, 2019 Category: Opthalmology Source Type: research

Revealing a retinal facilitatory effect with the multifocal ERG
ConclusionThe present study indicates a significant enhancement in amplitude of the summed mfERG composite waveform evoked to the 7 hexagon stimulus array (and to a lesser extent to the 19, 37 and 61 stimuli) compared to the 1 hexagon array, possibly mediated through the retinal lateral pathway (horizontal or amacrine cells), a claim that awaits confirmation. Preliminary results obtained from patients treated with Plaquenil suggest that this new method of mfERG analysis might probe a feature of macular function different from that investigated with the more usual method of mfERG ring ratio. (Source: Documenta Ophthalmologica)
Source: Documenta Ophthalmologica - January 31, 2019 Category: Opthalmology Source Type: research

Retinal dystrophy associated with a single-base deletion mutation in mitochondrial DNA 3271 in patient with MELAS syndrome
ConclusionsThese findings indicate that the RPE atrophy was wider and the rod dysfunction was more severe affected than that of previously reported MELAS cases with the m.3243A  >  G mutation. (Source: Documenta Ophthalmologica)
Source: Documenta Ophthalmologica - January 30, 2019 Category: Opthalmology Source Type: research

Objective assessment of visual acuity: a refined model for analyzing the sweep VEP
ConclusionsBoth models, the 2nd-order polynomial and the modified Ricker model performed equally well in the prediction of the visual acuity based on the amplitudes recorded using the sweep VEP. However, the modified Ricker model does not require the exclusion of data points from the fit, as necessary when fitting the 2nd-order polynomial model making it more reliable and robust against outliers, and, in addition, provides a measure for the noise of the recorded results. (Source: Documenta Ophthalmologica)
Source: Documenta Ophthalmologica - January 29, 2019 Category: Opthalmology Source Type: research

Pattern visual evoked potential in hypothyroid patients
ConclusionsIn conclusion, low levels of circulating hypothyroid hormone are associated with delay in the pattern VEP to small check sizes. This CNS involvement worsens in patients with greater severity and duration of hypothyroidism. (Source: Documenta Ophthalmologica)
Source: Documenta Ophthalmologica - January 24, 2019 Category: Opthalmology Source Type: research

Little effect of 0.01% atropine eye drops as used in myopia prevention on the pattern electroretinogram
AbstractPurposeDaily administration of 0.01% atropine eye drops is a promising approach for myopia control. The mechanism of action is believed to involve the dopaminergic system of the retina, triggering an increased release of dopamine. Previous studies in psychiatric condition such as major depression suggest that pattern electroretinogram (PERG) amplitudes are modulated by changes in retinal dopamine. It is thus plausible that atropine eye drops could have an effect on PERG amplitudes. The present study was designed to test this, assessing the difference in amplitude between contrast levels and the ratio of amplitudes ...
Source: Documenta Ophthalmologica - January 24, 2019 Category: Opthalmology Source Type: research

Comparison between broadband and monochromatic photopic negative response in full-field electroretinogram in controls and subjects with primary open-angle glaucoma
AbstractPurposeA prospective, cross-sectional, case –control study was conducted to investigate the role of broadband and monochromatic photopic negative response (PhNR) of the full-field flash electroretinogram (ERG) in the evaluation of ganglion cell damage in primary open-angle glaucoma (POAG) subjects.MethodsSubjects with POAG and age-matched normal subjects were recruited from the outpatient department of a tertiary eye care center in South India. A total of 25 patients with POAG and 50 age-matched normal subjects were recruited. ERG was recorded using broadband (3.5  cd.s/m2 white stimulus on 10  cd/m...
Source: Documenta Ophthalmologica - January 12, 2019 Category: Opthalmology Source Type: research

Visual evoked cortical potential elicited by pseudoisochromatic stimulus
ConclusionPseudoisochromatic stimulus can be an alternative stimulus to generate VECPs dominated by the chromatic mechanism. (Source: Documenta Ophthalmologica)
Source: Documenta Ophthalmologica - January 7, 2019 Category: Opthalmology Source Type: research

Acknowledgement to scientific referees 2018
(Source: Documenta Ophthalmologica)
Source: Documenta Ophthalmologica - December 28, 2018 Category: Opthalmology Source Type: research

Sub-hyaloid and sub-internal limiting membrane macular hemorrhage after laser exposure at music festival: a case report
ConclusionThe expanding and unregulated use of lasers in everyday life has created an increasing amount of cases of laser-induced retinopathy in recent years. Much more attention should be addressed in laser safety and awareness to prevent future ocular injuries. In acute phases of sub-hyaloid hemorrhages blocking direct visualization of the posterior pole, mfERG is a valuable tool to address initial macular pathology. (Source: Documenta Ophthalmologica)
Source: Documenta Ophthalmologica - December 18, 2018 Category: Opthalmology Source Type: research

Flash visual evoked potentials (FVEP) in various stimulation conditions
AbstractAimTo compare flash visual evoked potentials (FVEP) elicited using a Ganzfeld bowl (G), Mini Ganzfeld (MG) and Flash Goggles (GG) with eyes open and closed.Patients and methodThe study group comprised 17 volunteers with mean age of 30  years; all of them were examined with the Roland Consult electrophysiological diagnostic system. Active electrodes were placed at O1 and O2. With the G and MG stimulators, the flash generated by white-light-emitting diodes (LEDs) presented standard flash of 3  cd s m−2. The GG used red LED flash of 3  cd s m−2. Stimulus frequency of 1.0 ...
Source: Documenta Ophthalmologica - November 23, 2018 Category: Opthalmology Source Type: research

Toxicity and in vivo release profile of sirolimus from implants into the vitreous of rabbits ’ eyes
ConclusionsIntravitreal PLGA or SRL-PLGA implants caused no significant reduction in cell viability and showed no evident toxic effect on the function or structure of the retina of the animals. SRL was released from PLGA implant after application in the vitreous of rabbits during 8  weeks. (Source: Documenta Ophthalmologica)
Source: Documenta Ophthalmologica - November 19, 2018 Category: Opthalmology Source Type: research

Clinical and molecular characterization of non-syndromic retinal dystrophy due to c.175G & gt;A mutation in ceroid lipofuscinosis neuronal 3 ( CLN3 )
ConclusionsOur case study shows that (1) non-syndromicCLN3 disease leads to rod and delayed primary cone degeneration resulting in constricting peripheral field and enlarging central scotoma and, (2) the c.175G>ACLN3 mutation, altered splicing of theCLN3 gene. Overall, we provide comprehensive clinical characterization of a patient with non-syndromicCLN3 disease. (Source: Documenta Ophthalmologica)
Source: Documenta Ophthalmologica - November 16, 2018 Category: Opthalmology Source Type: research