Author: Carlos Rangel (Colombia)
Co-authors: Jessica Lapuente, Angelica Pedraza-Concha, Virgilio Galvis
Purpose
To report how retina specialists may lead a syndrome diagnosis previously managed as isolated non-related systemic diseases in a 30-year-old male with a history of chronic renal insufficiency in hemodialysis, hypertension and hypoacusia who complained of 3 years of progressive bilateral visual loss but more in the right eye (OD). On previous ophthalmologic approaches, was initially diagnosed with hypertensive retinopathy and received 3 antiVEGF intravitreal injections in OD.
Setting/Venue
The case encountered in a clinical multidisciplinary setting. It has an ideal venue for resident education, and as reminder to every ophthalmology and retina specialist’s that every patient should be evaluated as a whole not setting aside that ophthalmological findings could be part of a syndrome involving several systems.
Methods
Case report
Results
Due to previous hypertensive retinopathy with a history of antiVEGF, the patient assisted for a second concept in our retina department. The patient’s Best corrected visual acuity (BCVA) was 20/300 in the OD and 20/100 in the left eye (OS). Ophthalmic examination revealed bilateral anterior lenticonus and bilateral foveal pigmentary changes (Fig. 1), therefore Optical Coherence Tomography (OCT) from posterior and anterior segment where done. Macular OCT revealed bilateral macular temporal thinning (Fig. 2), and anterior segment OCT confirmed bilateral anterior lenticonus (Fig. 3); thus, within these findings and systemic previous history, the diagnosis of Alport Syndrome was clinically established.
Conlusions
Inherited retinal diseases are a non scarce cause of blindness in which the X-linked retinopathies represent a diverse subgroup with progressive or stationary conditions, with or without syndromic features (1). Alport syndrome is a hereditary disease, being X linked the most frequently (80-85%) reported. Prevalence is reported between 1/10.000 to 1/50.000. It is related to collagen 4A deficiency, a structural collagen protein present in the kidney (glomerular basement membrane, bowman’s capsule and tubular distal basement membrane), eye (lens capsule, Descemet’s membrane, Bruch’s membrane and internal limiting membrane) and cochlea (inner and outer spiral sulcus, limbus, basilar membrane and spiral prominence) (2,3). Possible ocular findings are anterior lenticonus, fleck retina, temporal retinal thinning with hyper-reflective internal limiting membrane, rarely macular holes and giant retinal tears (1). The syndrome can be associated with hematuria, progressive renal failure, sensorineural hypoacusis and ocular anomalies in up to 30% of affected individuals. Ocular involvement is almost pathognomonic of the disease. It is more frequent and severe in males, and 3% of the cases are diagnosed early during childhood though in terminal renal disease (2). In this case, despite renal, cochlear and ocular involvement, Alport syndrome was not sought until he came to our clinic.
Financial Disclosure
None
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