Two cases of myotonic dystrophy manifesting various ophthalmic findings with genetic evaluation.

We report two cases of myotonic dystrophy in one family; both diagnosed from genetic analysis following ophthalmic indications, but before the manifestation of systemic symptoms. A 39‑year‑old female visited our clinic for routine examination. Mild ptosis, sluggish pupillary response, and bilateral snowflake cataracts were found. Fundus examination revealed an increased cup‑to‑disc ratio (CDR) in both eyes and a defect in the retinal nerve fiber layer in the right eye. Intraocular pressure was low, but within the normal range in both eyes. Because cataracts are characteristic of myotonic dystrophy, we suggested that her 14‑year‑old daughter, who did not have any systemic complaints, undergo ophthalmic examination. She also had mild ptosis and snowflake cataracts. Both patients underwent genetic evaluation and were diagnosed with myotonic dystrophy caused by unstable expansion of cytosine‑thymine‑guanine trinucleotide repeats in the dystrophia myotonica‑protein kinase gene. Ophthalmologists can diagnose myotonic dystrophy based on clinical and genetic findings, before the manifestation of systemic abnormalities.

A case of corneal cystinosis in a patient with rickets and chronic renal failure.

A 22‑year‑old man diagnosed with nephropathic cystinosis at the age of 4 years was found to have progressive bilateral corneal crystal deposition. He presented with severe photophobia and decreased visual acuity. Ocular cystinosis was diagnosed on observing the typical crystals. Optical coherence tomography showed multiple areas of stromal hyperreflectivity due to crystal deposits within the corneal stroma. Ex vivo transmission electron microscopy of the cornea showed pathognomonic crystal deposits in corneal stromal keratocytes. Using polymerase chain reaction sequencing of the entire coding region, we identified five gene mutations, including two unreported mutations.

Anterior dislocation of an empty capsular bag in a pseudophakic eye: A rare case report.

Spontaneous intraocular lens (IOL) dislocation is uncommon in the absence of any ocular areas with zonular weakness or trauma. There have been no reports of spontaneous capsular bag dislocation into the anterior chamber without an IOL. We report a rare, interesting case of spontaneous capsular bag anterior dislocation, without an IOL, into the anterior chamber with no history of genetic disease, ocular trauma, or pseudoexfoliation that might predispose to a zonular abnormality.