Alport syndrome with bilateral simultaneous anterior and posterior lenticonus with severe temporal macular thinning

Abstract

Alport syndrome (AS) is a hereditary disease with various modes of inheritance, X-linked being the the most common. Anterior lenticonus is the characteristic abnormality along with perimacular and peripheral fleck retinopathy. Our two cases of AS had simultaneous anterior and posterior lenticonus with severe temporal macular thinning on optical coherence tomography with no specific renal symptomatology and were diagnosed as AS without any invasive renal biopsy. First patient was a 19-year-old man who presented with compound myopia due to bilateral anterior and posterior lenticonus with perimacular fleck retinopathy and lozenge sign and bilateral moderate sensorineural hearing loss (SNHL). Second patient was a 24-year-old man who presented with difficulty in vision due to bilateral anterior and posterior lenticonus with bilateral severe SNHL. Our cases emphasise the crucial role of an ophthalmologist in diagnosing AS before the onset of renal symptoms and prompting further nephrological work-up in the patient or the carrier.

Ocular Manifestations and Potential Treatments of Alport Syndrome: A Systematic Review

“…Fukukita et al [ 32 ] investigated retinal changes in 26 AS patients living in Japan and discovered the same symptoms with the exclusion of retinal thinning and cataracts. Finally, several other studies by Gupta et al [ 37 ] who studied 2 AS patients in India and Wong et al who examined 1 AS patient in Australia [ 48 ] corroborated the lenticonus and retinopathies' presence. In total, these six studies showed 95 AS patients from six different countries with similar symptoms.…”

“…AS ocular effects have yet to be proven to be alleviated by surgical approaches, such as vitrectomies, cataract surgeries, and IM peeling [ 29 , 32 , 35 , 37 , 38 , 47 ]. These techniques have been used to help target ocular findings and complications in non-AS patients.…”

“…is entire process is summarized as a flow diagram in Figure 1. Of the 23 included studies, twelve were case studies on an individual or a group of patients [30,33,35,37,39,41,[43][44][45][46][47]50], two were prospective studies [29,38], three were retrospective studies [31,32,49], and six were mixed methodology studies that did not meet the previous three categories [28,34,36,40,42,48] (Table 1). 20 studies reported AS ocular abnormalities only [28,[30][31][32][33][34][35][36][37][38][40][41][42][43][44][45][46][47][48][49], and the remaining 3 studies reported both ocular abnormalities and potential medical treatments [29,39,…”

“…Of the 23 included studies, twelve were case studies on an individual or a group of patients [30,33,35,37,39,41,[43][44][45][46][47]50], two were prospective studies [29,38], three were retrospective studies [31,32,49], and six were mixed methodology studies that did not meet the previous three categories [28,34,36,40,42,48] (Table 1). 20 studies reported AS ocular abnormalities only [28,[30][31][32][33][34][35][36][37][38][40][41][42][43][44][45][46][47][48][49], and the remaining 3 studies reported both ocular abnormalities and potential medical treatments [29,39,50]. We did not identify any studies that confirmed a high success, standardized medical treatment for AS ocular abnormalities.…”

Temporal macular thinning: a salient sign of Alport syndrome

“…Temporal macular thinning on OCT has been highlighted as the commonest ocular finding in X-linked and recessive AS, with an incidence ranging from 75-90% in males and 55-75% in females. 6 Kandon et al reported a cohort of 32 patients with temporal macular thinning, which occurs frequently in male patients with XLAS; this specific sign helps not only for diagnosis but also for prognostication of XLAS. 5 Savige and colleagues had similar findings in their observation of 10 patients with Alport syndrome.…”