Paraproteinemic Keratopathy in a Patient With Previous LASIK Procedure Mimicking Lattice Corneal Dystrophy.

PURPOSE: The aim of this study was to report a unique clinical presentation of paraproteinemic keratopathy after a myopic uneventful laser in situ keratomileusis (LASIK) procedure that led to the diagnosis of gammopathy of undetermined significance. METHODS: This was an interventional case report. A 55-year-old woman present with bilateral branching opacities limited to the optical zone of myopic LASIK. The patient's medical history was unremarkable. RESULTS: After ruling out a mutation in TGF-ß1 , a systemic workup was performed, revealing an IgG level of 12.8 mg/dL, lambda-free light chain of 12.8 mg/dL, and M-spike of 0.6 g/dL. Bone marrow aspiration was slightly hypercellular, without evidence of neoplastic infiltration by plasma cells. The patient underwent 3 cycles of systemic chemotherapy, with improvement in best-corrected visual acuity. CONCLUSIONS: Paraproteinemic keratopathy is a rare clinical presentation that may lead to a systemic diagnosis of hematologic malignancy. To the best of our knowledge, this is the first reported case of paraproteinemic keratopathy after LASIK.

Autofluorescence in female carriers with choroideremia: A familial case with a novel mutation in the CHM gene.

BACKGROUND: Choroideremia is an X-linked chorioretinal dystrophy caused by mutations in the CHM gene. The main differential diagnosis is X-linked retinitis pigmentosa. Clinically, male patients that are affected by these two diseases have similar symptoms. This work aims to report a familial case of choroideremia initially diagnosed as X-linked retinitis pigmentosa with a novel mutation in the CHM gene, and the relevance of fundus autofluorescence (FAF) in female carriers. MATERIALS AND METHODS: A complete ophthalmological evaluation was done in a 37-year-old woman and her 53-year-old maternal uncle; the uncle had been diagnosed previously with X-linked retinitis pigmentosa. A visual field test, FAF imaging, full-field electroretinography, and a genetic test were performed. RESULTS: In the proband, the fundoscopy revealed diffuse changes in the retinal pigment epithelium in both eyes, and the FAF showed a speckled pattern of low- and high-density. The maternal uncle's ophthalmological evaluation showed choroidal and retinal atrophy consistent with choroideremia. The molecular analysis revealed a pathogenic variant in the CHM gene, c.190-1 G > T. CONCLUSIONS: In female carriers of choroideremia and X-linked retinitis pigmentosa, differential diagnosis may be challenging. A speckled pattern of low- and high-density in autofluorescence is commonly found in female carriers of choroideremia. FAF is a powerful tool for making a correct clinical diagnosis because the pattern in FAF is much more apparent than the visible retinal changes obtained by fundoscopy. Although it is crucial to perform molecular analysis to confirm the diagnosis, FAF is useful when genetic testing may not be readily available.