Ocular phenotype and therapeutic interventions in keratitis-ichthyosis-deafness (KID) syndrome
CONCLUSIONS: Keratitis-ichthyosis-deafness syndrome is a rare ectodermal dysplasia caused by heterozygous mutations in GJB2 (Cx26) with a severe, progressive vascularizing keratopathy. Oral ketoconazole therapy may offer benefit in stabilizing the corneal and skin disease.PMID:37755702 | DOI:10.1080/13816810.2023.2258218 (Source: Ophthalmic Genetics)
Source: Ophthalmic Genetics - September 27, 2023 Category: Opthalmology Authors: Keri Mc Lean Stefano Bignotti Michele Callea Francisco Cammarata-Scalisi Bernhard Steger David Armstrong Maeve Lagan Janet Sinton Francesco Semeraro Stephen B Kaye Vito Romano Colin E Willoughby Source Type: research
< em > PNPLA6 < /em > disorders: what's in a name?
CONCLUSIONS: Clinicians should be aware of choroideremia-like ocular presentation in patients who also experience growth defects, motor dysfunction, and/or hair anomalies. Although NTE biochemistry is well characterized, further research on the relationship between genotype and the presence or absence of retinopathy should be explored to improve diagnosis and prognosis.PMID:37732399 | DOI:10.1080/13816810.2023.2254830 (Source: Ophthalmic Genetics)
Source: Ophthalmic Genetics - September 21, 2023 Category: Opthalmology Authors: James Liu Robert B Hufnagel Source Type: research
Hypomorphic < em > CDHR1 < /em > variants may result in retinitis pigmentosa with relative preservation of cone function
CONCLUSIONS: CDHR1-associated RP shows a relative preservation of cone function in the presence of a presumed hypomorphic allele and may be considered a hypomorphic disease phenotype. Further work is required to identify modifying factors that determine disease phenotype since macular dystrophy, with relative sparing of rods, may also occur with hypomorphic CDHR1 alleles.PMID:37728066 | DOI:10.1080/13816810.2023.2255265 (Source: Ophthalmic Genetics)
Source: Ophthalmic Genetics - September 20, 2023 Category: Opthalmology Authors: Soma Farag Imran H Yusuf Maria Kaukonen Laura J Taylor Peter Charbel Issa Robert E MacLaren Source Type: research
Floating-Harbor syndrome with chorioretinal colobomas
We present a case of a child with Floating-Harbor Syndrome (FHS) with bilateral chorioretinal coloboma (CC). To the best of our knowledge, this is the first case report of this association. Floating- Harbor syndrome is an extremely rare autosomal dominant genetic disorder with approximately 100 cases reported. It is characterized by a series of atypical features that include short stature with delayed bone age, low birth weight, skeletal anomalies, delayed speech development, and dysmorphic facial characteristics that typically portray a triangular face, deep-set eyes, long eyelashes, and prominent nose.MATERIALS AND METHO...
Source: Ophthalmic Genetics - September 18, 2023 Category: Opthalmology Authors: Samantha Alanis M P Blair L M Kaufman G Bhat Michael J Shapiro Source Type: research
Ocular manifestations of the genetic renal tubulopathies
CONCLUSIONS: Ocular abnormalities are uncommon in the genetic tubulopathies but may be helpful in recognizing the underlying genetic disease. The retinal expression and mouse phenotype data suggest that further ocular associations may become apparent with additional reports. Early identification may be necessary to monitor and treat visual complications.PMID:37702059 | DOI:10.1080/13816810.2023.2253901 (Source: Ophthalmic Genetics)
Source: Ophthalmic Genetics - September 13, 2023 Category: Opthalmology Authors: GeFei Yang Heather Mack Philip Harraka Deb Colville Judy Savige Source Type: research
