Journal of Cataract & Refractive Surgery
Volume 34, Issue 1 , Pages 5-6, January 2008

Reply: Is anterior lenticonus the most common ocular finding in Alport syndrome?

Article Outline

 

Amiraslanzadeh states that our sentence about anterior lenticonus being found in 90% of Alport syndrome patients is not correct. He then says that 90% of anterior lenticonus patients are associated with Alport syndrome, but this does not mean that 90% of Alport syndrome patients have anterior lenticonus.

In a study by Colville and Savige, 1 the prevalence of anterior lenticonus in Alport syndrome is 25%. In a report by Chugh et al.,2 the prevalence is 37.8% in 63 patients. In this report, the prevalence of other clinical manifestations is as follows: hematuria, 96.8%; deafness, 82.5%; diminished visual acuity, 66.7%; hypertension, 71.4%; high-frequency sensorineural deafness, 96.8%; bilateral anterior lenticonus, 37.8%; retinal flecks, 22.2%; cataract, 20%; and keratoconus, 6.7%.

The typical ocular associations of Alport syndrome are a dot-and-fleck retinopathy, which occurs in about 85% of patients; anterior lenticonus, which occurs in about 25%; and the rare posterior polymorphous corneal dystrophy.1 Additional ocular features described in Alport syndrome include other corneal dystrophies, microcornea, arcus, iris atrophy, cataract, spontaneous lens rupture, spherophakia, posterior lenticonus, a poor macular reflex, fluorescein angiogram hyperfluorescence, electrooculogram and electroretinogram abnormalities, retinal pigmentation,1 macular hole,3 and, rarely, telangiectasia of conjunctiva.4

The prevalence of ocular manifestation in Alport syndrome in the literature varies; in some reports the corneal manifestations are high5 and in others, lenticular or retinal manifestations are high.1, 6 Teekhasaenee et al.5 reported that ocular findings were present in 82.3% of their Alport syndrome patients and that corneal changes such as posterior polymorphous dystrophy were the most common (64.7%). Colville et al.6 reported that dot-and-fleck retinopathy and anterior lenticonus were present in almost 75% of their cases.

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References 

  1. Colville DJ, Savige J. Alport syndrome; a review of the ocular manifestations. Ophthalmic Genet. 1997;18:161–173
  2. Chugh KS, Sakhuja V, Agarwal A, et al. Hereditary nephritis (Alport's syndrome)—clinical profile and inheritance in 28 kindreds. Nephrol Dial Transplant. 1993;8:690–695
  3. Gupta V, Kumar N. Bilateral macular holes: an unusual feature of Alport syndrome. Retina. 2002;22:499–501
  4. Decock C, De Laey JJ, Leroy BP, Kestelyn PH. Alport syndrome and conjunctival telangiectasia. Bull Soc Belge Ophtalmol. 2003;290:29–31
  5. Teekhasaenee C, Nimmanit S, Wutthiphan S, et al. Posterior polymorphous dystrophy and Alport syndrome. Ophthalmology. 1991;98:1207–1215
  6. Colville D, Wang YY, Jamieson R, et al. Absence of ocular manifestations in autosomal dominant Alport syndrome associated with haematological abnormalities. Ophthalmic Genet. 2000;21:217–225

PII: S0886-3350(07)01782-8

doi:10.1016/j.jcrs.2007.08.041

Journal of Cataract & Refractive Surgery
Volume 34, Issue 1 , Pages 5-6, January 2008

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