Lenticonus Anterior and Alport's Syndrome

Nielsen, Claus Ege

doi:10.1111/j.1755-3768.1978.tb01365.x

Cited by 64 publications

(17 citation statements)

References 28 publications

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“…3,12,14 Anterior lenticonus is present in 25%-50% of patients. 3,12,15,16,28 It is a relatively specific sign because nearly all recently reported cases have been associated with this disorder. Less commonly reported ocular findings include blue sclera, 29 pigment dispersion, 30 iris atrophy and heterochromia, 27 cataract, 2,10,12 microspherophakia, 2 lens coloboma 31 abnormal macular reflex, 27 tapetal-like sheen, 32 pigment epithelial dystrophy, 3 vascular tortuosity and telangiectasia, 14 retinal detachment, 33 macular holes, 34 and optic nerve pseudoneuritis and disc drusen.…”

Section: Discussionmentioning

confidence: 98%

Novel Corneal Phenotype in a Patient With Alport Syndrome

Bower

Edwards

Wagner

et al. 2009

Cornea

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Section: Discussionmentioning

confidence: 98%

Novel Corneal Phenotype in a Patient With Alport Syndrome

Bower

Edwards

Wagner

et al. 2009

Cornea

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“…They also include manifestations of temporal thinning (4), such as loss of the foveal reflex, a lozenge, disturbances of foveal pigmentation (50), including a bull's eye or vitelliform maculopathy (7), and lamellar and giant macular hole (6,51) (Figure 4, Table 1). …”

Section: Retina: Central Fleck Retinopathy and Peripheral Coalescing mentioning

confidence: 99%

Ocular Features in Alport Syndrome

Savige

Sheth

Leys

et al. 2015

Clinical Journal of the American Society of Nephrology

173

150

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Alport syndrome is an inherited disease characterized by progressive renal failure, hearing loss, and ocular abnormalities. Mutations in the COL4A5 (X-linked), or COL4A3 and COL4A4 (autosomal recessive) genes result in absence of the collagen IV a3a4a5 network from the basement membranes of the cornea, lens capsule, and retina and are associated with corneal opacities, anterior lenticonus, fleck retinopathy, and temporal retinal thinning. Typically, these features do not affect vision or, in the case of lenticonus, are correctable. In contrast, the rarer ophthalmic complications of posterior polymorphous corneal dystrophy, giant macular hole, and maculopathy all produce visual loss. Many of the ocular features of Alport syndrome are common, easily recognizable, and thus, helpful diagnostically, and in identifying the likelihood of early-onset renal failure. Lenticonus and central fleck retinopathy strongly suggest the diagnosis of Alport syndrome and are associated with renal failure before the age of 30 years, in males with X-linked disease. Sometimes, ophthalmic features suggest the mode of inheritance. A peripheral retinopathy in the mother of a male with hematuria suggests X-linked inheritance, and central retinopathy or lenticonus in a female means that recessive disease is likely. Ocular examination, retinal photography, and optical coherence tomography are widely available, safe, fast, inexpensive, and acceptable to patients. Ocular examination is particularly helpful in the diagnosis of Alport syndrome when genetic testing is not readily available or the results are inconclusive. It also detects complications, such as macular hole, for which new treatments are emerging.

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“…There are a number of less common features described which are considered specific to the syndrome. These include loss of the foveal reflex and disturbances of foveal pigmentation (Nielsen 1978) and posterior polymorphous dystrophy (Sabates et al 1983;Thompson et al 1987). Genetic heterogeneity has been proposed as a possible explanation for the variable frequency of ocular features and for the varying severity of renal disease (Gubler et al 1981).…”

Section: Discussionmentioning

confidence: 99%