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
Neuropathy, ataxia, retinitis pigmentosa: a case of a mother and two siblings
CONCLUSIONS: Once genetically established, NARP syndrome, as other mitochondrial disorders, has a very variable progression with different degrees of severity. A multimodal approach involving both neurological and ophthalmological diagnosis of NARP syndrome is necessary in order to establish the course of the disease and the measures to be taken.PMID:37671548 | DOI:10.1080/13816810.2023.2253905 (Source: Ophthalmic Genetics)
Source: Ophthalmic Genetics - September 6, 2023 Category: Opthalmology Authors: Mark Rabinovich Olivia Zambrowski Alexandra Miere Rakia Bhouri Eric Souied Source Type: research
