Progression in juvenile X‐chromosomal retinoschisis

Abstract

Forty-five males and one homozygotic female showing X-chromosomal juvenile retinoschisis were re-investigated in 1987 after an average follow-up study of more than 22 years. Twenty-two of them had been investigated by fundus-photography for at least 14 years.With time, the typical radial micro-cystic macular area flattens out and atrophies. In very old persons only some large choroidal vessels are seen, covering the sclera in the previously radiating area. In young patients with additional peripheral schisis the veil ruptures, the schisis area flattens out, the holes grow and may unite. In the outer retinal layer pigment degeneration develops. In congenitally severe cases the atrophy is marked and rapid. The retinal vessels attenuate and the nerve head becomes pale. Total blindness results in cases of this cathegory. The severity of retinoschisis varies much in patients belonging to the same family and even in the two eyes of the same person.

Visual impairment in Nordic children

“…Diagnosis before the age of 2 is usually difficult, especially in mild cases with only a macular involvement. After having relatively good visual acuity of 0.3-0.7 when young, slow progression ofmaculo-588 pathy and deterioration of retinal functions (Forsius et al 1973;Yamaguchi et al 1989;Forsius et al 1990) may seriously affect the central vision with age, especially after 40. Diagnosingis equally dEicult in older patients with atypical and severe macular chorioretinal atrophy.…”

“…It is relatively common in Canada, The Netherlands, and the USA, and several cases have also been diagnosed in Japan (Forsius et al 1973). In Finland this dystrophy is probably more common than in any other country, with approximately 300 cases having been diagnosed so far (Forsius & Eriksson 1980;Forsius et al 1990).…”

Retinal organoids with X-linked retinoschisis RS1 (E72K) mutation exhibit a photoreceptor developmental delay and are rescued by gene augmentation therapy

“…Females carrying XLRS heterozygous are considered asymptomatic [1,6]. The best corrected visual acuities (BCVA) of affected men vary from 20/20 to 20/600, and progressive visual acuities (VA) loss range from 0.22 to 0.5 letters per year [7,8]. Some patients develop serious complications, such as retinal detachment, vitreous hemorrhage, and retinal tears, with the progression of the disease, which can lead to dramatic vision loss [5].…”

A Carrier Female Manifesting an Unusual X-Linked Retinoschisis Phenotype Associated with the Pathogenic Variant c.266delA, p.(Tyr89LeufsTer37) in RS1, and Skewed X-Inactivation

“…RS1 is important in maintaining the structural integrity of the retina and numerous loss of function variants have since been described [ 2 ]. XLRS is the leading cause of juvenile macular degeneration in males [ 3 ], with a reported incidence of 1 in 15,000 to 1 in 30,000 [ 4 ].…”

“…There is a wide range of phenotypic variability both inter- and intrafamilially even with the same causative RS1 variant [ 4 ]. Best corrected visual acuities may vary from 20/20 to 20/600 [ 3 ]. Clinical diagnosis of XLRS can be challenging, with reports of an average delay of 8 years from symptom onset [ 5 ].…”