Subject(s)
Fraser Syndrome , Fatal Outcome , Fraser Syndrome/diagnosis , Humans , Infant, Newborn , Male , PhenotypeABSTRACT
Congenital anophthalmia is the result of a lack of development or regression of the primary optic vesicle in utero. It can be isolated or associated with other malformations and can be unilateral or, rarely, bilateral. Different etiologies are usually found such as chromosomal aberrations, gene mutations, toxic agents, and infections. We report a case of bilateral congenital anophthalmia in a setting of a polymalformative syndrome with microcephalia and bilateral lip cleft. Karyotype studies confirmed trisomy 13 known as Patau's syndrome. Trisomy 13 is a rare lethal chromosomal aberration frequently responsible for uni- or bilateral microphthalmia and occasionally for anophthalmia.
Subject(s)
Abnormalities, Multiple/genetics , Anophthalmos/genetics , Chromosomes, Human, Pair 13 , Cleft Lip/genetics , Trisomy , Female , Humans , Infant, NewbornABSTRACT
Fundus albipunctatus is a recessive autosomal disease classified as one of the causes of congenital stationary night blindness. It is characterized by early hemeralopia beginning in infancy. We report the incidental discovery of the disease in a 23-year-old black African man with late hemeralopia onset. During the 4 years of follow-up, visual acuity, ERG, and visual field remained normal. We underline the possibility of late hemeralopia onset and discuss the possible progressive features of this disease. Progression may be conditioned by the mutation of the RDH5 gene, which codes for retinol dehydrogenase-5.