X-Linked Hereditary Retinoschisis

Abstract

AN X-linked degenerative retino-choroidal disease, hereditary retinoschisis, has been identified in the last 10 years. In milder cases the disease takes the form of radial macular degeneration, but in severe cases a grey sheet-like veil is attached to the detachment in the retinal vasculature, especially in the lower temporal quadrant. In differential diagnosis, according to Ricci (1960), a dominant hereditary hyaloid-retinal degeneration (Wagner, 1938) and a recessive hereditary hyaloid-tapeto-retinal degeneration (Favre, 1958) should be borne in mind. Genealogical tables covering several generations have been described by Sorsby, Klein, Gann, and Siggins (1951), Levy (1952), Jager (1953), Balian and Falls (1960), and Gieser and Falls (1961). The last described a 13-yearold girl-possibly a latent carrier-with cystic (perhaps traumatic) macular degeneration. Rieger (1941) described a girl in whom the pathological picture was reminiscent of retinoschisis, but gave no genealogical or genetic

Three Novel Mutations in the X-Linked Juvenile Retinoschisis <i>(XLRS1)</i> Gene in 6 Japanese Patients, 1 of Whom Had Turner’s Syndrome

“…The proband female in family B illustrated a rare, and we believe as yet unreported, clinical association of RS1 with Turner's syndrome. To our knowledge, there have been only 2 females with RS1 that have been reported in the literature, both of whom were the offspring of consanguineous parents with familial RS1 [12,19]. The data collected from family C suggested that assessment of the XLRS1 gene provides a useful diagnostic tool for the establishment of exclusion of a diagnosis of RS1, particularly in cases where family history is noncontributory.…”

“…Patients with juvenile retinoschisis are most commonly males, though rarely, females may develop clinical manifestation as a result of parental consanguinity-associated heterozygosity of the pathogenic gene [12,19]. We herein report the presence of three novel mutations in the XLRS1 gene in Japanese patients, 1 of whom was a symptomatic female patient who also had Turner's syndrome.…”

Retinosquises

“…Anomalia genética bem definida, acomete congenitamente crianças quase sempre do sexo masculino, indiferente da raça (mulheres são portadoras e muito excepcionalmente exibem repercussões fundoscópicas (61,62) ). Relatos em meninas são conhecidos, tendo em comum a existência da consanguinidade, a síndrome de Turner, podendo, outrossim, tratar-se de condição similar, a doença de Goldman-Favre (62)(63)(64) (degeneração vítrea, herança autossômica recessiva, "clumps" pigmentares, nictalopia, redução ondas A e B, tabela).…”

Three widespread founder mutations contribute to high incidence of X-linked juvenile retinoschisis in Finland

“…A woman can get the disease only if she has an affected father and a heterozygous mother, usually as a result of a consanguineous marriage. A few affected females have been described in the literature, [5][6][7] including one with Turner syndrome. 8 Several linkage studies have localised the RS gene to a 1 cM interval DXS418-DXS999/DXS7161 on Xp22.…”