Search

Purpose: Pathogenic variants in the CLDN19 gene are responsible for Familial Hypomagnesemia with Hypercalciuria and Nephrocalcinosis (FHHNC) with ocular pathology (MIM *248190). Our objective was to delineate the ophthalmological and genetic manifestations of a patient with FHHNC and a pathogenic variant in CLDN19 ., Case Report: A 25-year-old woman presented with renal involvement and a best-corrected visual acuity of 20/25 in the right eye and finger-counting ability in the left eye. The patient exhibited high myopia, convergent strabismus, and chorioretinal atrophic plaques in the perifoveal and peripapillary areas. We conducted a comprehensive ophthalmological examination, including refraction, fundoscopy, color and autofluorescence retinography, optical coherence tomography, and electrophysiology tests. Additionally, next-generation sequencing was performed using Illumina NextSeq500. We identified a homozygous missense variant, c.59G>A p.Gly20Asp, in the CLDN19 gene as the cause of renal and ocular manifestations., Conclusion: FHHNC is associated with various ocular alterations. The unique retinal disorders described in this article suggest a more favorable visual prognosis compared to those previously reported in the literature. Determining the phenotypic diversity of this disease may aid in the diagnosis and management of future cases.

Purpose: To report a case of isolated conjunctival inflammation as initial manifestation of IgG4-related disease and subsequent development of panuveitis., Case Report: A 75-year-old female presented with a diffuse mass lesion in the temporal area of the left eye, involving the conjunctiva, and an abscessed corneal ulcer. An incisional biopsy was diagnostic of IgG4-related disease with an elevated IgG4/IgG ratio (>40%) and the presence of >10 cells that tested positive for IgG4/CGA. No other ocular, orbital or systemic manifestations were noted at the time of diagnosis. After a year of treatment with topical dexamethasone, oral prednisone, and methotrexate, the patient developed panuveitis, which was controlled by increasing steroids and switching to rituximab., Conclusion: IgG4-related disease is a rare entity that can be particularly challenging to diagnose if it manifests in an atypical manner. Continuous follow-up of patients is crucial as relapses and worsening of symptoms can occur despite treatment.