A unique case of bilateral nanophthalmos and pigmentary retinal abnormality with unilateral angle closure glaucoma and optic disc pit

Abstract Background Microophthalmos or ‘dwarf eye’ is characterized by an axial length 2 standard deviation less than age-matched controls. It is classified into nanophthalmos, relative anterior microphthalmos, and posterior microphthalmos based on the anterior segment: posterior segment ratio. Nano...

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Main Authors: Prerna Garg, Brajesh Kumar, Suneeta Dubey
Format: Article
Language:English
Published: BMC 2023-09-01
Series:BMC Ophthalmology
Subjects:
Online Access:https://doi.org/10.1186/s12886-023-03132-8
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author Prerna Garg
Brajesh Kumar
Suneeta Dubey
author_facet Prerna Garg
Brajesh Kumar
Suneeta Dubey
author_sort Prerna Garg
collection DOAJ
description Abstract Background Microophthalmos or ‘dwarf eye’ is characterized by an axial length 2 standard deviation less than age-matched controls. It is classified into nanophthalmos, relative anterior microphthalmos, and posterior microphthalmos based on the anterior segment: posterior segment ratio. Nanophthalmos can occur in association with optic disc drusen, foveoschisis, and retinitis pigmentosa, as an autosomal recessive syndrome linked to mutations in the MFRP gene. We report a case of bilateral nanophthalmos and pigmentary retinopathy with angle closure glaucoma and optic disc pit in one eye. We believe this to be the first case presenting with optic disc pit in association with nanophthalmos. Case presentation A 56-year-old female presented with bilateral small eyes, high hypermetropia, shallow anterior chamber depth, increased lens thickness, mid-peripheral retinal flecks, and macular edema. She also had high intraocular pressure in the right eye, with a disc cupping of 0.9 with an Optic disc pit. The macular edema in the right eye was found to occur in association with the Optic disc pit, whereas, in the left eye, it was associated with intra-retinal hemorrhages and diagnosed as macular branch retinal vein occlusion secondary to hypertension. She was started on anti-glaucoma medications in both eyes and planned for Anti-VEGF injection in the left eye. Conclusion This case report is unique as it reports an association of Nanophthalmos with Optic Disc pit, with an associated angle closure glaucoma in the same eye, an association which has never been previously reported in the literature.
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spelling doaj.art-f7d1c2c42af54ebc90379e35b8a3198c2023-11-26T12:39:43ZengBMCBMC Ophthalmology1471-24152023-09-012311410.1186/s12886-023-03132-8A unique case of bilateral nanophthalmos and pigmentary retinal abnormality with unilateral angle closure glaucoma and optic disc pitPrerna Garg0Brajesh Kumar1Suneeta Dubey2Dr. Shroff Charity Eye HospitalDr. Shroff Charity Eye HospitalDr. Shroff Charity Eye HospitalAbstract Background Microophthalmos or ‘dwarf eye’ is characterized by an axial length 2 standard deviation less than age-matched controls. It is classified into nanophthalmos, relative anterior microphthalmos, and posterior microphthalmos based on the anterior segment: posterior segment ratio. Nanophthalmos can occur in association with optic disc drusen, foveoschisis, and retinitis pigmentosa, as an autosomal recessive syndrome linked to mutations in the MFRP gene. We report a case of bilateral nanophthalmos and pigmentary retinopathy with angle closure glaucoma and optic disc pit in one eye. We believe this to be the first case presenting with optic disc pit in association with nanophthalmos. Case presentation A 56-year-old female presented with bilateral small eyes, high hypermetropia, shallow anterior chamber depth, increased lens thickness, mid-peripheral retinal flecks, and macular edema. She also had high intraocular pressure in the right eye, with a disc cupping of 0.9 with an Optic disc pit. The macular edema in the right eye was found to occur in association with the Optic disc pit, whereas, in the left eye, it was associated with intra-retinal hemorrhages and diagnosed as macular branch retinal vein occlusion secondary to hypertension. She was started on anti-glaucoma medications in both eyes and planned for Anti-VEGF injection in the left eye. Conclusion This case report is unique as it reports an association of Nanophthalmos with Optic Disc pit, with an associated angle closure glaucoma in the same eye, an association which has never been previously reported in the literature.https://doi.org/10.1186/s12886-023-03132-8NanophthalmosOptic disc pitAngle-closure diseaseOptic disc drusen
spellingShingle Prerna Garg
Brajesh Kumar
Suneeta Dubey
A unique case of bilateral nanophthalmos and pigmentary retinal abnormality with unilateral angle closure glaucoma and optic disc pit
BMC Ophthalmology
Nanophthalmos
Optic disc pit
Angle-closure disease
Optic disc drusen
title A unique case of bilateral nanophthalmos and pigmentary retinal abnormality with unilateral angle closure glaucoma and optic disc pit
title_full A unique case of bilateral nanophthalmos and pigmentary retinal abnormality with unilateral angle closure glaucoma and optic disc pit
title_fullStr A unique case of bilateral nanophthalmos and pigmentary retinal abnormality with unilateral angle closure glaucoma and optic disc pit
title_full_unstemmed A unique case of bilateral nanophthalmos and pigmentary retinal abnormality with unilateral angle closure glaucoma and optic disc pit
title_short A unique case of bilateral nanophthalmos and pigmentary retinal abnormality with unilateral angle closure glaucoma and optic disc pit
title_sort unique case of bilateral nanophthalmos and pigmentary retinal abnormality with unilateral angle closure glaucoma and optic disc pit
topic Nanophthalmos
Optic disc pit
Angle-closure disease
Optic disc drusen
url https://doi.org/10.1186/s12886-023-03132-8
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