Optic disc pit with maculopathy ­ a case report. / [Dolek rozwojowy tarczy nerwu wzrokowego z makulopatia ­ opis przypadku].

The article presents a case of an 18-year old man with bilateral optic disc pit associated with serous macular detachment in the left eye. Optic disc pit is a rare congenital abnormality of the optic nerve head, which affects 1:11 000 people, with no gender predilection. Optic disc pits are usually incidental findings on fundus examination. In ophthalmic examination, optic disc pit presents as an oval, gray, white or yellowish depression in the optic disc, commonly involving temporal quadrants, but may be situated in any sector. Approximately 25­75% of eyes with optic disc pits have a poor visual prognosis, as a result of serous macular detachment and macular holes. There are no guidelines on the management of patients with optic disc pit maculopathy. Numerous techniques have been described, including laser photocoagulation, intravitreal gas injection and pars plana vitrectomy with many different modifications.

Focal macular electroretinogram in X-linked congenital retinoschisis.

PURPOSE: To study macular function of X-linked congenital retinoschisis (CRS) by focal macular electroretinogram (MERG). METHODS: MERGs were recorded with 5 degrees, 10 degrees, and 15 degrees spots in 20 patients with CRS. Seventeen patients showed foveal schisis with little or no change in foveal fluorescein angiography (Group 1), and three patients showed advanced macular changes with nonspecific macular degeneration (Group 2). RESULTS: In Group 1, a-wave amplitudes were within the normal range, but b-waves and oscillatory potentials (OPs) had mean amplitudes significantly below those for normal control subjects. The mean b- to a-wave ratios, significantly lower than in normal eyes, decreased significantly with decreasing spot size. The implicit times of a-waves, b-waves, and OPs were significantly delayed. In Group 2, MERGs were nearly nondectable. CONCLUSIONS: The macular pathology of CSR exists mainly in the middle and inner retinal layers, disturbing the fovea more than the perifovea, whereas degeneration of photoreceptors progresses in more advanced stage.

Congenital hereditary (juvenile X-linked) retinoschisis. Histopathologic and ultrastructural findings in three eyes.

One surgically enucleated and two postmortem eyes were obtained from two related men with congenital hereditary retinoschisis. A periodic acid-Schiff-positive amorphous material was identified within the retina adjacent to the schisis cavities. Ultrastructural examination of this material showed numerous extracellular filaments, measuring approximately 11 nm in diameter. Similar filaments were found in the vitreous in all three globes and in a normal globe. We believe that the intraretinal filaments are produced by defective Müller cells and that their extracellular accumulation may lead to degeneration of cells and subsequent schisis formation.

Indications for vitrectomy in congenital retinoschisis.

Two patients with congenital retinoschisis developed rhegmatogenous retinal detachments with either a tractional component or associated vitreous haemorrhage. The second patient also had a large, raised schisis cavity under vitreous traction, which obscured visualisation of the macula. Vitrectomy is indicated for some patients with congenital retinoschisis.

[Bullous form of X-linked congenital retinoschisis in infants]. / Bulleznaia forma X-stseplennogo vrozhdennogo retinoshizisa u detei rannego vozrasta.

Clinical manifestations and course of bullous X-linked congenital retinoschisis were studied in 10 infants aged 6-18 months. Visual function was evaluated by registration of electroretinogram and visual evoked potentials. The patients were followed up for 7.65 +/- 2.51 years. Giant retinal cysts were observed in 40% patients with X-linked retinoschisis aged under 3 years. Collapse (spontaneous or after laser coagulation of the retina) of retinal cysts with formation of demarcation pigmented lines was observed in 85% children. Twenty percent patients developed hemophthalmia which was completely resorbed within 4-12 months. At the age of 6-12 years visual acuity was 0.36 +/- 0.23. The prognosis of the condition is favorable, and therefore surgical treatment or laser coagulation are not recommended in infants with bullous retinoschisis, on condition that no negative changes in the disease course are observed.

Vascularized vitreous membranes in congenital retinoschisis.

Congenital retinoschisis is a bilateral x-linked disease characterized by a stellate maculopathy and retinoschisis. The pathogenesis is unknown. This article describes a patient with congenital retinoschisis and documents the unique development of vascularized vitreous membranes. A posterior vitreous separation with subsequent vascularization of the posterior hyaloid face occurs early in the course of the disease process and is coincident with the development of maculopathy and schisis cavities. This process may represent an important element in the pathogenesis of the maculopathy and schisis cavities in congenital retinoschisis. With atrophy of the neovascular tissue, a membrane remains and consists of a thickened area of the posterior hyaloid face.