ABSTRACT
BACKGROUND: CACNA1F-related disorders encompass progressive and non-progressive disorders, including Åland island eye disease and incomplete congenital stationary night blindness. These two X-linked disorders are characterized by nystagmus, color vision defect, myopia, and electroretinography (ERG) abnormalities. Ocular hypopigmentation and iris transillumination are reported only in patients with Åland island eye disease. Around 260 variants were reported to be associated with these two non-progressive disorders, with 19 specific to Åland island eye disease and 14 associated with both Åland island eye disease and incomplete congenital stationary night blindness. CACNA1F variants spread on the gene and further analysis are needed to reveal phenotype-genotype correlation. CASE REPORT: A complete ocular exam and genetic testing were performed on a 13-year-old boy. A novel splice-site variant, c.4294-11C>G in intron 36 in CACNA1F, was identified at hemizygous state in the patient and at heterozygous state in his asymptomatic mother and explained the phenotype synonymous with Åland island eye disease and incomplete congenital stationary night blindness observed in the patient. CONCLUSION: We present a novel variant in the CACNA1F gene causing phenotypic and electrophysiologic findings indistinguishable from those of AIED/CSNB2A disease. This finding further expands the mutational spectrum and our knowledge of CACNA1F-related disease.
Subject(s)
Albinism, Ocular/diagnosis , Albinism, Ocular/genetics , Calcium Channels, L-Type/genetics , Eye Diseases, Hereditary/diagnosis , Eye Diseases, Hereditary/genetics , Genetic Diseases, X-Linked/diagnosis , Genetic Diseases, X-Linked/genetics , Mutation , Myopia/diagnosis , Myopia/genetics , Night Blindness/diagnosis , Night Blindness/genetics , Phenotype , RNA Splice Sites , Adolescent , Alleles , DNA Mutational Analysis , Electroretinography , Genetic Association Studies/methods , Genetic Predisposition to Disease , Genetic Testing , Genotype , Humans , Male , Optical Imaging , Pedigree , Tomography, Optical CoherenceABSTRACT
Purpose: To report the prevalence of the perinatal ocular disease in healthy infants referred to a referral eye centre in the Middle East region for comprehensive ocular examinations.Methods: All healthy full-term babies born at a tertiary care women's and children hospital were referred to Moorfields Eye Hospital Centre in Abu Dhabi (MEHCAD), the United Arab Emirates for comprehensive ocular examination between January 2018 and April 2019. The examination included red-reflex testing, external, anterior and dilated posterior segment examination, and refraction.Results: Out of 6836 newborns, 4719 (69%) were not referred due to lack of national insurance (n = 3089), out of network referral (n = 1405), required ROP screening (n = 220) and identification of systemic diagnosis (n = 5). Of 2117 eligible referrals 897 (42%) babies were not examined because they either did not attend (890) or had a double booking for ROP screening (7); hence, 1220 babies (56%) were examined. Their mean age was 39 ± 16 days, and 48.8% were male, 51.2% were female. One hundred and sixty-four (13.4%) babies had an ocular abnormality in 249 (10.2%) eyes. The commonest abnormalities were nasolacrimal duct obstruction (36%) and refractive errors in 53 patients (32.3%). Congenital cataract and ptosis were present in four (0.3%) and three (0.2%) babies, respectively. The commonest retinal findings were intra-retinal haemorrhages (1.4%). Other posterior pole abnormalities included optic disc pit (0.08%) and myelinated nerve fibers (0.08%). One eye (0.08%) had a congenital macular hole.Conclusion: Comprehensive ocular examinations of healthy infants identifies a number of ocular abnormalities that would not be detected using red-reflex testing by a paediatrician or nurse.
Subject(s)
Lacrimal Duct Obstruction , Nasolacrimal Duct , Optic Disk , Refractive Errors , Adult , Child , Female , Humans , Infant , Infant, Newborn , Male , Middle Aged , Pregnancy , Refractive Errors/diagnosis , Refractive Errors/epidemiology , Retina , Young AdultABSTRACT
We report the case of young boy with Williams-Beuren syndrome with abnormal extraocular muscle insertions that were discovered during routine strabismus surgery. All 4 horizontal rectus muscles were thin, and 3 inserted much further back from the limbus than normal.
