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

Content Provider	Springer Nature : BioMed Central
Author	Garg, Prerna Kumar, Brajesh Dubey, Suneeta
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.
Related Links	https://bmcophthalmol.biomedcentral.com/counter/pdf/10.1186/s12886-023-03132-8.pdf
Ending Page	4
Page Count	4
Starting Page	1
File Format	HTM / HTML
ISSN	14712415
DOI	10.1186/s12886-023-03132-8
Journal	BMC Ophthalmology
Issue Number	1
Volume Number	23
Language	English
Publisher	BioMed Central
Publisher Date	2023-09-26
Access Restriction	Open
Subject Keyword	Ophthalmology Nanophthalmos Optic disc pit Angle-closure disease Optic disc drusen
Content Type	Text
Resource Type	Case study
Subject	Ophthalmology
Journal Impact Factor	1.7/2023
5-Year Journal Impact Factor	2/2023

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