Alport's syndrome with bilateral macular hole

Mete, Ufuk; Karaaslan, Cüneyt; Özbilgin, Mahmut Kemal; Polat, Sait; Tap, Özgül; Kaya, Mehmet

doi:10.1111/j.1600-0420.1996.tb00688.x

Cited by 38 publications

(24 citation statements)

References 13 publications

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“…1 There have been two reports of bilateral macular holes associated with the disease. 2,3 In this report, we describe a patient with large bilateral macular holes who had anatomical hole closure and improved vision after unilateral macular hole surgery.…”

mentioning

confidence: 93%

Macular Hole Surgery in Alport Syndrome

Miller

Rodriguez²,

Smiddy³

et al. 2007

RETINAL Cases &Amp; Brief Reports

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mentioning

confidence: 93%

Macular Hole Surgery in Alport Syndrome

Miller

Rodriguez²,

Smiddy³

et al. 2007

RETINAL Cases &Amp; Brief Reports

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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%

“…Holes may be bilateral, asymmetric, or unilateral. They start with multiple small defects (59) hollowed out from the surface of the inner limiting membrane (6) due to accelerated passage of fluid through the defective Bruch's membrane, and followed by fusion of the microcysts, when the abnormal membrane breaks down (51). Thus, fullthickness macular holes arise from collagen IV abnormalities in Bruch's membrane and the internal limiting membrane together with anomalous vitreoretinal traction, retinal detachment (60), and anterior lens capsule rupture (61).…”

Section: Lamellar and Giant Macular Holesmentioning

confidence: 99%

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Ocular Features in Alport Syndrome

Savige

Sheth

Leys

et al. 2015

Clinical Journal of the American Society of Nephrology

170

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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“…3,4,[15][16][17][18][19][20][21][22][23][24][25][26] Macular thinning is probably common in Alport syndrome but thinning sufficient to cause a macular hole is rare. [29][30][31][32] The retinopathy affects the superficial layers of the retina and the defective α3α4α5(IV) collagen network is present in the Bruch membrane, but the precise pathology of the retinopathies is still unknown. 33 recurrent corneal ero sions and posterior poly morphous corneal dystrophy also occur in Alport syndrome but are uncommon.…”

Section: Ocular Characteristicsmentioning

confidence: 99%

Ocular features aid the diagnosis of Alport syndrome

Savige

Colville

2009

Nat Rev Nephrol

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Alport syndrome is a common cause of inherited kidney failure but often goes unrecognized. Most affected families show an X-linked pattern of inheritance where affected males develop renal failure and hearing loss, and often lenticonus and retinopathy. Lenticonus is evident on both ophthalmoscopy and slit-lamp examination but retinal abnormalities are more obvious on imaging. Such abnormalities include a perimacular dot-and-fleck retinopathy and a peripheral fleck retinopathy, which might occur independently of each other; a 'dull macular reflex' or 'lozenge', when the perimacular flecks are confluent; and, rarely, a macular hole caused by retinal thinning. Imaging of the central and peripheral retina including 'red-free' views is a rapid, noninvasive and inexpensive test that might aid the diagnosis of Alport syndrome, particularly in male individuals with early-onset renal failure. The assistance of an interested ophthalmologist is invaluable in the diagnosis of Alport syndrome.

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Alport's syndrome with bilateral macular hole

Cited by 38 publications

References 13 publications

Macular Hole Surgery in Alport Syndrome

Macular Hole Surgery in Alport Syndrome

Ocular Features in Alport Syndrome

Ocular features aid the diagnosis of Alport syndrome

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