Tapetal-Like Sheen Associated With Fleck Retinopathy in Alport Syndrome

Cervantes-Coste, Guadalupe; Fuentes-Páez, Graciana; Yeshurun, Itamar; Jimenez–Sierra, J.

doi:10.1097/00006982-200304000-00020

Cited by 15 publications

(14 citation statements)

References 3 publications

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“…The demonstration of a dot-and-fleck retinopathy in any individual with a family history of Alport syndrome or with end-stage renal disease is diagnostic of the syndrome. 9,11 Additional ocular features described in the X-linked form include other corneal dystrophies, microcornea, arcus, iris atrophy, cataract, spontaneous lens rupture, spherophakia, posterior lenticonus, 8 poor macular reflex, 4 and macular hole. 6 Telangiectasia of the conjunctiva, 12 fluorescein angiogram hyperfluorescence, electrooculogram and electroretinogram abnormalities, and retinal pigmentation 9 have also been reported.…”

Section: Discussionmentioning

confidence: 99%

Phacoemulsification and intraocular lens implantation in Alport syndrome with anterior lenticonus

Zare

Rajabi

Nili-Ahmadabadi

et al. 2007

Journal of Cataract and Refractive Surgery

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Eleven eyes of 6 patients with Alport syndrome had phacoemulsification with implantation of a single-piece acrylic hydrophobic intraocular lens (IOL) (AcrySof SA6OAT, Alcon) because of anterior lenticonus. All patients had excellent visual acuity after surgery. We recommend phacoemulsification with IOL implantation as a safe and effective procedure in patients with anterior lenticonus secondary to Alport syndrome.

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Section: Discussionmentioning

confidence: 99%

Phacoemulsification and intraocular lens implantation in Alport syndrome with anterior lenticonus

Zare

Rajabi

Nili-Ahmadabadi

et al. 2007

Journal of Cataract and Refractive Surgery

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“…The lozenge (56), dull macular reflex (56,57), foveopathy, and lamellar and macular holes all affect the temporal retina (Figure 4, K-O) (6,51) and reflect retinal thinning of both the inner limiting membrane and Bruch's membrane (4,19,44).…”

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

183

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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“…49 -51,46 In severe disease the flecks outline a perimacular lozenge. 52,53 Peripheral flecks are more common than the perimacular retinopathy. Retinal abnormalities are best visualized using red-free photographs and the peripheral retinopathy requires multiple images.…”

Section: Drusenmentioning

confidence: 99%