Nanophthalmos is a clinical spectrum of disorders with a phenotypically small but structurally normal eye. These disorders present significant clinical challenges to ophthalmologists due to a high rate of secondary angle-closure glaucoma, spontaneous choroidal effusions, and perioperative complications with cataract and retinal surgeries. Nanophthalmos may present as a sporadic or familial disorder, with autosomal-dominant or recessive inheritance. To date, five genes (i.e., MFRP, TMEM98, PRSS56, BEST1, and CRB1) and two loci have been implicated in familial forms of nanophthalmos. Here, we review the definition of nanophthalmos, the clinical and pathogenic features of the condition, and the genetics of this disorder.

A 3-year-old girl presented with a distorted pupil and decrease of visual acuity. A ciliary body mass at the superior-temporal quadrant could be seen at slit-lamp examination. Ultrasound biomicroscopy revealed a lesion with lobulated surface, arising at the ciliary body, composed of compact and cystic areas. An iridocyclectomy was performed but the tumour recurred after a few months. The eye was then enucleated. Histopathologic evaluation showed sheets and cords of proliferated medullary epithelium. Cystic spaces and Flexner-Wintersteiner rosettes were also seen. Those findings correlated well with ultrasound biomicroscopic images. The knowledge of echographic characteristics can significantly assist in the diagnosis of medulloepithelioma of the ciliary body.

PurposeTo report a case of bilateral acute myopia and angle closure glaucoma after ingestion of methazolamide.MethodsAn interventional case report of a 70-year-old male who developed bilateral, acute myopia and angle closure glaucoma after ingesting methazolamide tablets for the treatment of normal tension glaucoma.ResultsBilateral anterior chamber shallowing associated with ciliary body edema, supraciliary effusions, and shallow posterior choroidal effusions were documented with slit-lamp photography and high-frequency ultrasonography. Near complete resolution of these signs after discontinuation of methazolamide were also documented.ConclusionMethazolamide may be associated with secondary myopia and angle closure glaucoma. Discontinuation of methazolamide leads to resolution of this process, as documented by slit-lamp photography and high-frequency ultrasonography.

Purpose Our purpose is to describe a 60-year-old male, who has plateau iris configuration and developed bilateral ciliochoroidal effusion syndrome after ingestion of acetazolamide. Observations Our case was a research participant in a multi-center clinical study (ClinicalTrials.gov NCT01677507). During the course of this study, he was treated with a single dose of acetazolamide (500 mg), and seven days later treated with latanoprost one drop daily at bedtime both eyes for seven days, and then was administered another dose of acetazolamide (500 mg). Several hours later he complained of blurred vision in the distance and mild headache. On examination, he had a myopic shift, intraocular pressures of 36 mmHg in right eye and 35 mmHg in left eye, shallow anterior chambers both eyes, and occluded angles by gonioscopy both eyes. An echographic exam confirmed the bilateral ciliochoroidal effusion syndrome. He was treated by no further dosing of acetazolamide and started on timolol, atropine and prednisolone. Two weeks later, the bilateral choroidal effusion and acute angle closure were resolved. Repeat echography showed plateau iris configuration. Conclusions and Importance To the best of our knowledge, drug-induced bilateral ciliochoroidal effusion syndrome has not been reported with acetazolamide in plateau iris configuration.