Angle-closure glaucoma in a patient with the nanophthalmos-ocular cystinosis-foveoschisis-pigmentary retinal dystrophy complex

Abstract

BackgroundTo report clinical features of bilateral angle-closure glaucoma in a patient with nanophthalmic eyes associated with ocular cystinosis, foveoschisis and pigmentary retinal dystrophy. This is probably the first published report of the possible association of all these five entities in the same patient.Case presentationA 50-year-old white male was referred for uncontrolled glaucoma in both eyes. He was previously diagnosed with angle-closure glaucoma in association with ocular cystinosis. Ocular examination revealed high hyperopia (+13.5 OD and +14 OS diopters) with reduced axial length (16.27 mm OD and 15.93 mm OS). Despite being on 3 topical medications, his IOP measured 37 mmHg OD and 35 mm Hg OS. Slit-lamp biomicroscopy showed refractile, polychromatic crystalline deposits throughout the cornea and conjunctiva in both eyes. Gonioscopy revealed an extremely narrow angle with peripheral anterior synechiae (PAS). Anterior chamber depths were shallow. Fundus examination disclosed punctate hypopigmentation of the retinal pigment epithelium mainly at the posterior pole. Optical coherence tomography showed foveal schisis appearing as small retinal cysts. The patient did not display any systemic abnormalities.ConclusionsThis case brings into discussion a new clinical entity of angle closure glaucoma in nanophthalmos accompanied by ocular cystinosis-foveoschisis-pigmentary retinal dystrophy complex.

Clinical Characteristics of Idiopathic Foveomacular Retinoschisis

“…This theory is supported by some case reports that have described retinoschisis with microphthalmus. 30,31 However, we cannot apply the same logic to the current cases because they had shorter axial lengths (i.e., 18 or 15 mm).…”

Treatment of Inherited Eye Defects by Systemic Hematopoietic Stem Cell Transplantation

“…It also should be noted that pupillary block may elevate IOP in cystinosis patients and in the mouse model. 13,38 This is caused by a deposition of cystine crystals in the iris, which can lead to a seal between the iris and lens, bulging the iris forward, and closing the flow of aqueous fluid out the trabecular meshwork. 13,39 Thus, in addition to corneal-related IOP lowering, it also is possible that lower IOP we observed in HSPC engrafted Ctns À/À mice was due to lower crystal accumulation in the iris, where HSPC-derived cells were found (Fig.…”

Efficacy of Topical Dorzolamide Therapy for Cystoid Macular Edema in a Patient With MFRP-Related Nanophthalmos–retinitis Pigmentosa–foveoschisis–optic Disk Drusen Syndrome

“…However, since 2006, a series of cases have reported the association of MFPR mutation and posterior microphthalmos, RP, macular abnormalities and optic disc drusen. 1–3 …”

“…Fundus examination of patients with the MFRP-related syndrome usually shows multiple, irregular, round yellow-white flecks located at the mid periphery, with 2 or without 1,3 “bone spicule” hyperpigmentation. ERG studies show a rod-cone pattern of dysfunction, with severe rod system involvement.…”

“…1–3 MFRP mutations have long been related to isolated nanophthalmos without retinal changes. It is still not known why some mutations cause isolated nanophthalmos, while others originate the nanophthalmos-RP-foveoschisis-optic disc drusen complex.…”