Investigating the role of BEST1 and PRPH2 variants in the molecular aetiology of adult-onset vitelliform macular dystrophies.
Conclusion: In conclusion, AVMD is a genotypic and phenotypic heterogeneous disease. The genetic aetiology could not be explained by sequencing BEST1 and PRPH2 genes in the AVMD patients; however, the variant of PRPH2 could be a cause of predisposition relevant to the phenotype. PMID: 32942919 [PubMed - as supplied by publisher]
AbstractPurpose of ReviewThis review aims to discuss retinal diseases that may masquerade as neurological causes of vision loss and highlights modern ophthalmic ancillary testing that can help to establish these diagnoses.Recent FindingsRetinal diseases with signs and symptoms overlapping with neurological causes of vision loss include central serous chorioretinopathy, retinal ischemia, acute macular neuroretinopathy, Acute zonal occult outer retinopathy (AZOOR) complex diseases, paraneoplastic retinopathy, retinal dystrophy, and toxic retinopathy. Diagnosis is facilitated by electrophysiologic studies and multimodal ophth...
ConclusionsThe full-field scotopic and photopic ERGs were normal. The mfERGs were significantly smaller in the central region. OCT demonstrated bilateral photoreceptor atrophy in the macula, and the rate of EZ loss was more rapid than in other macular dystrophies. Spark-like hypoautofluorescence appeared during the course of the disease process which might be a specific feature of SCA1-related retinopathy.
ConclusionFundus imaging associated with ERG may be significant in IRD diagnosis and visual impairment prognosis, alongside genetic analysis and therapy in selected cases.
ConclusionOur results indicated that this novelCLN3 missense variant is associated with teenage ‐onset isolated retinal dystrophy. This is the first report of any patient withCLN3‐associated disorder in the Japanese population. Although fingerprint profiles have never been reported inCLN3‐associated isolated retinal dystrophy, these profiles were observed, albeit infrequently, suggesting that frequency of the fingerprint profiles might depend on variant types.
CONCLUSION: X-linked retinoschisis is a well-known inherited retinal disease potentially affecting young children as early as 3 months old. In this case, the stunning presentation (diffuse retinal pigment epithelium dystrophic changes resembling a macular dystrophy) and the positive course of the disease (resolution of macular retinal detachment in the left eye and stability of schisis in the right eye) arise some interesting considerations about the necessity of an early surgical treatment. PMID: 32306756 [PubMed - as supplied by publisher]
ConclusionThe clinical presentation and genetic studies confirmed a diagnosis of Cockayne syndrome in both sisters caused by compound heterozygous mutations in theERCC8 gene on chromosome 10. Multimodal ocular imaging and systemic findings revealed wide phenotypic variability between the affected siblings.
CONCLUSIONS: Neonatal screening with the red reflex is not sufficient to detect intraocular disease. A normal neonatal red reflex does no exclude intraocular disease. It has a specificity of nearly 90%, but its sensitivity is only 56%. Most retinal haemorrhages are undiagnosed as they cannot be detected with a red reflex. PMID: 31826811 [PubMed - as supplied by publisher]
Conditions: Abnormal Vitreous Humor Morphology; Abnormal Choroid Morphology; Optic Nerve Diseases; Retinal Disease; Retinal Hemorrhage Intervention: Diagnostic Test: Direct ophthalmoscope Sponsor: Children's Research Institute Recruiting
Conclusion: Recent onset flecks in Stargardt disease display short fluorescence lifetimes and convert into longer fluorescence lifetime flecks over time. This transition may represent a change in the composition of retinal deposits with accumulation of lipofuscin and retinoid by-products from the visual cycle. With emerging treatment options, these findings may prove useful to monitor disease progression and therapeutic effects.
Conclusion: In our study, an ILM autologous macular transplant was used successfully in 5 cases of macular hole recurrence and 3 cases of macular hole persistence. The anatomical success was achieved in all the cases; 4 patients improved their BCVA, and 4 patients maintained it. No macular alterations such as RPE or retinal atrophy/dystrophy were observed after 6 months. PMID: 30956814 [PubMed]