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Ophthalmology
Published in Stephan Strobel, Lewis Spitz, Stephen D. Marks, Great Ormond Street Handbook of Paediatrics, 2019
A rare developmental anomaly that may be associated with various syndromes: CHARGE syndrome (coloboma; heart defects; atresia choanae; retarded growth and development or central nervous system anomalies, or both; genital anomalies or hypogonadism, or both; and ear anomalies or deafness, or both); micro syndrome (microphakia, microphthalmos, characteristic lens opacity, atonic pupils, cortical visual impairment, microcephaly, and developmental delay); MIDAS (microphthalmia, dermal aplasia, and sclerocornea – also known as MLS) syndrome; oculodentodigital dysplasia. Multiple chromosomal abnormalities may be present.
Anophthalmia and microphthalmia in children: associated ocular, somatic and genetic morbidities and quality of life
Published in Ophthalmic Genetics, 2022
Cecilia Fahnehjelm, Eva Dafgård Kopp, Josephine Wincent, Evin Güven, Mattias Nilsson, Monica Olsson, Kristina Teär Fahnehjelm
Among the five unilateral cases with ORA, three children had subnormal visual acuity with severe myopia, retinal degeneration, nystagmus and/or macular hypoplasia in the contralateral eye. The child with macular hypoplasia, case 22, had a micro-syndrome with BCOR-mutation. He had subnormal hearing and speech problems and a second-degree relative with A. He is described in a previous cohort (20). The child with retinal degeneration, case 13, had a chromosome 17p13.1p13.2-deletion, microcephaly, epilepsy, a congenital heart defect and died during the study period. The third child had normal genetic findings but presented with unilateral cleft lip and jaw, intellectual impairment and vertebral anomalies (Tables 2 and 3).
Case report of four siblings in southeast Turkey with a novel RAB3GAP2 splice site mutation: Warburg micro syndrome or Martsolf syndrome?
Published in Ophthalmic Genetics, 2018
Warburg Micro Syndrome (MIM 600118, 614225, 615222, 615663) is a extremely rare autosomal recessive disease characterized by congenital cataract, microcornea, microphtalmia, microcephaly, severe mental retardation, developmental delay, structural brain anomalies, spasticity leading to contracture and hypothalamic hypogonadism. In addition, patients present large and asymmetric ears, low anterior hairline, hypotonia, minimal to absent speech and overlapping toe. Warburg Micro syndrome was first described in a Pakistani family in 1993 (1). This syndrome characterized by a mutation of RAB3GAP1 gene on chromosome 2q21.3, RAB3GAP2 gene on chromosome 1q41, RAB18 gene on chromosome10p21.1 and TBC1D20 gene on chromosome 20p13 (2,3). To date, more than 70 human Rab proteins (which apply to the Ras family of small G proteins) have been identified and they are regulators of exocytosis of hormones and brain neurotransmitter. Rab3 proteins are essential for functional brain and eye development. The task of this protein family is to participate in neurodevelopmental transaction like differentiation, migration and reproduction (4). The mutations observed in RAB3GAP1 and RAB3GAP2 are the most common cause of Warburg Micro syndrome. RAB3GAP alters active Rab3-GTP to the inactive -GDP form . RAB3GAP1 composes the heterodimeric complex RAB3GAP along with RAB3GAP2. RAB3GAP1 is the catalytic subunit of this complex, while RAB3GAP2 is the non-catalytic unit. RAB3GAP2 is a 35 exon gene that codifies 1393 amino acid protein (5). Approximately, 150 families of the Warburg Micro syndrome and about less than 100 mutations have been identified to date. Most of mutations are associated with RAB3GAP1 (http://www.hgmd.org).