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

Kenan Sonmez1, Pehmen Y Ozcan1
1Ulucanlar Eye Training and Research Hospital, Third Eye Clinic, Ankara, Turkey

Tóm tắt

To 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. A 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. This case brings into discussion a new clinical entity of angle closure glaucoma in nanophthalmos accompanied by ocular cystinosis-foveoschisis-pigmentary retinal dystrophy complex.

Từ khóa


Tài liệu tham khảo

Ghose S, Sachdev MS, Kumar H: Bilateral nanophthalmos, pigmentary retinal dystrophy, and angle closure glaucoma–a new syndrome?. Br J Ophthalmol. 1985, 69: 624-628. 10.1136/bjo.69.8.624. Zenteno JC, Buentello-Volante B, Quiroz-Gonzalez MA, Quiroz-Reyes MA: Compound heterozygosity for a novel and a recurrent MFRP gene mutation in a family with the nanophthalmos-retinitis pigmentosa complex. Mol Vis. 2009, 15: 1794-1798. MacKay CJ, Shek MS, Carr RE, Yanuzzi LA, Gouras P: Retinal degeneration with nanophthalmos, cystic macular degeneration, and angle closure glaucoma. A new recessive syndrome. Arch Ophthalmol. 1987, 105: 366-371. 10.1001/archopht.1987.01060030086032. Singh OS, Simmons RJ, Brockhurst RJ, Trempe CL: Nanophthalmos: a perspective on identification and therapy. Ophthalmology. 1982, 89: 1006-1012. Kimbrough RL, Trempe CS, Brockhurst RJ, Simmons RJ: Angle-closure glaucoma in nanophthalmos. Am J Ophthalmol. 1979, 88: 572-579. Gahl WA, Thoene JG, Schneider JA: Cystinosis: a disorder of lysosomal membrane transport. The metabolic & molecular bases of inherited disease. Edited by: Scriver CR, Beaudet AL, Sly WS, Valle D. 2001, McGraw-Hill, New York, 5085-5108. 8 The Cystinosis Collaborative Research Group: Linkage of the gene for cystinosis to markers on the short arm of chromosome 17. Nat Genet. 1995, 10: 246-248. 10.1038/ng0695-246. Gahl WA, Thoene JG, Schneider JA: Cystinosis. N Engl J Med. 2002, 347: 111-121. 10.1056/NEJMra020552. Mungan N, Nischal KK, Heon E, MacKeen L, Balfe JW, Levin AV: Ultrasound biomicroscopy of the eye in cystinosis. Arch Ophthalmol. 2000, 118: 1329-1333. 10.1001/archopht.118.10.1329. Tsilou ET, Rubin BI, Reed G, et al: Nephropathic cystinosis: posterior segment manifestations and effects of cysteamine therapy. Ophthalmology. 2006, 113: 1002-1009. 10.1016/j.ophtha.2005.12.026. The pre-publication history for this paper can be accessed here:http://www.biomedcentral.com/1471-2415/12/23/prepub