Journal of American Association for Pediatric Ophthalmology and Strabismus
Short ReportPosterior staphyloma in oculocutaneous albinism: another possible cause of reduced visual acuity
Section snippets
Case 1
A 9-month-old girl with nystagmus was referred to the Albinism Clinic at the University of Minnesota for ophthalmic evaluation. Her biological mother was African American, and her maternal grandmother had albinism. Visual acuity was estimated at 20/270 binocularly and 20/360 monocularly, with the acuity card procedure at 38 cm (Teller Acuity Cards, Stereo Optical Co. Inc, Chicago, IL). Physical examination showed blond hair, milky-white skin, and blue irides. Slit-lamp examination was normal,
Case 2
A 3-month-old girl, the younger sister of case 1, was referred to our clinic for evaluation of nystagmus. Visual acuity was estimated at 20/470 in the right eye, 20/710 in the left eye, and 20/380 binocularly at 38 cm (Teller Acuity Cards). Physical examination showed dark blond hair and eyelashes, white skin, and blue/gray irides with golden brown pigment centrally. Slit-lamp biomicroscopy showed grade 2 iris transillumination.1 Dilated examination of the fundi was significant for a grade 3
Case 3
A 91-year-old man with a clinical diagnosis of Hermansky-Pudlak syndrome (HPS) was seen at our clinic for a 10- to 20-year gradual decrease in vision. At age 78, visual acuity was 20/400 in the right eye and counting fingers in the left eye at 2 inches. At age 88, he was only able to count fingers in the right eye and perceive hand motion in the left eye. At age 91, visual acuity was light perception in each eye. He had horizontal nystagmus, grade 3 iris transillumination,1 and bilateral
Discussion
OCA is an autosomal recessive condition that affects melanin production in the skin, hair, and eyes. It may rarely be associated with a bleeding disorder due to HPS. All individuals with OCA have some degree of foveal hypoplasia, contributing to the frequent but variable reduction in visual acuity. Our 3 cases suggest that yet another cause of reduced visual acuity is the development of a posterior staphyloma, with RPE atrophy over time.
The first 2 cases presented here have OCA2 with mutations
Literature Search
PubMed was searched (1958-2015) in June 2015 using the following terms: albinism and staphyloma and posterior staphyloma. The reference sections of relevant articles were also reviewed. Untranslated foreign articles were excluded.
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Cited by (8)
Myopia: Histology, clinical features, and potential implications for the etiology of axial elongation
2023, Progress in Retinal and Eye ResearchCitation Excerpt :As discussed above, it remains unclear to what degree these findings obtained in tree shrews are applicable in humans. A feature of highly myopic eyes, but occurring also in some non–highly myopic eyes, are posterior staphylomas, which are outpouchings of a circumscribed region of the posterior sclera (Curtin, 1977; Hayashi, M et al., 2013; Lee, S et al., 2015; Liu et al., 2021; Maruko et al., 2011; Mehta et al., 2006; Moriyama et al., 2011; Nakao et al., 2022; Ohno-Matsui, 2014; Ohno-Matsui and Jonas, JB, 2019; Park, JH et al., 2016; Park, UC et al., 2021; Saito et al., 2021; Scott et al., 2005; Shinohara et al., 2016, 2017, 2018; Spaide, 2013; Tanaka et al., 2019; Wang, NK et al., 2016). Upon OCT-based histology, a posterior staphyloma is characterized by a relatively abrupt scleral thinning starting at the staphyloma edge, a pronounced de-arrangement of scleral collagen fibrils, and a marked choroidal thinning.
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2021, Annales de Dermatologie et de VenereologieInfluence of posterior staphyloma in myopic maculopathy and visual prognosis
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Supported, in part, by an unrestricted grant from Research to Prevent Blindness, Inc., New York, NY, to the Department of Ophthalmology and Visual Neurosciences at the University of Minnesota, Minneapolis, MN. This project was also partially supported by NIH grants UL1TR000427 and NIH 1U01HG006389-01.