Relato de Caso | Case RepoRt unusual macular thickness in Alport syndrome: case report Espessura macular atípica na síndrome de Alport: relato de caso

In 1927, Alport described the association of hereditary nephritis with sensorineural deafness observed in a family. In 1954, Sohar des­ cribed the presence of crystalline lens malformation associated with renal and hearing impairment. Finally, in 1961, Julien Marie reported the binding of Alport syndrome (AS) in the presence of anterior len­ ticonus. As occurs in an approximate incidence of 1 for each 5,000 live births and their inheritance is linked to the X chromosome in 85% of cases, a reason why women still frequently develop disease although with less debilitating features since as lyonization offers females some protection. It consists of systemic changes due to mutation in the COL4A genes responsible for synthesis of α­chains of type IV collagen present in basement membranes of many tissues. The COL4A5 gene is associated with X­linked disease as long as COL4A3 and COL4A4 genes occur mostly with autosomal recessive disease. Among the tissues affected, some could be highlighted such as glomerular basement membrane, basement membrane of the organ of Corti of the cochlea, lens capsule and inner limi ting membrane as well as Bruch’s membrane in the eye. Gre gory et al., proposed that diagnosis of AS was confirmed by the presence of 4 of the 10 crite­ ria suggested by him. The main systemic presentations of Alport syndrome are: renal failure, sensorineural hearing loss and early low visual acuity, manifested in the second decade of life. The decline of renal function begins with persistent hematuria and proteinuria and culminates in glomerulosclerosis, leading to the need of kidney trans­ plant. The most common ocular changes are anterior lenticonus and retinal dots and flecks. Posterior lenticonus, posterior polymorphous dystrophy, macular hole and macular atrophy are less commonly reported.