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Year : 2015  |  Volume : 6  |  Issue : 1  |  Page : 89-91

Ocular manifestation of the Alport syndrome: A case report

Department of Ophthalmology, Chettinad Hospital and Research Institute, Tamil Nadu, India

Date of Web Publication8-Dec-2014

Correspondence Address:
Charanya Chendilnathan
A 401 Urbanville, Velachery Main Road, Velachery, Chennai - 600 042
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Source of Support: None, Conflict of Interest: None

DOI: 10.4103/0975-9727.146476

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The Alport syndrome is a rare genetic disorder characterized by hematuria, sensorineural deafness, and ocular manifestations. The Alport syndrome accounts for 0.3 to 2.3% of end-stage kidney disease in young males and children. Here we report a case of the Alport syndrome, with all the characteristic features.

Keywords: Alport syndrome, lenticonus, renal failure

How to cite this article:
Raja AM, Janti SS, Matheen A, Chendilnathan C. Ocular manifestation of the Alport syndrome: A case report. Muller J Med Sci Res 2015;6:89-91

How to cite this URL:
Raja AM, Janti SS, Matheen A, Chendilnathan C. Ocular manifestation of the Alport syndrome: A case report. Muller J Med Sci Res [serial online] 2015 [cited 2023 Mar 21];6:89-91. Available from: https://www.mjmsr.net/text.asp?2015/6/1/89/146476

  Introduction Top

The Alport syndrome is a primary basement membrane disorder caused by mutations in the COL4A5 collagen gene, giving rise to defective type IV collagen, which is a major structural component of the basement membranes in renal glomeruli, cochlea, and the lens. Eighty percent of the patients have sensorineural deafness and 40% of the patients have lenticonus and retinal flecks in the eye. [1]

  Case Report Top

A 27-year-old male came with complaints of defective vision in both eyes, of six months' duration, which was greater in the right eye. The patient had elevated renal parameters with secondary hypertension. On examination, the right eye vision was 6/60, which was not improving with glasses or pinhole, and the left eye vision was 6/24, which improved with pinhole to 6/12. The conjunctivae, corneas, anterior chambers, and irises of both eyes were normal. The right eye lens showed posterior subcapsular cataract and the left eye lens was clear. Anterior lenticonus was seen in both eyes. In the left eye, distant direct ophthalmoscopy showed an oil droplet sign in the lens [Figure 1] and [Figure 2]. On fundus examination the right eye appeared normal and the left eye fundus showed flecks in the macula [Figure 3]. His blood urea was 23 mg/dl and serum creatinine was 4.16 mg/dl. Hemoglobin was 6.2 mg/dl and the peripheral smear showed erythropenia, mild anisocytosis, and polychromatophilic cells. We suspected the Alport syndrome from the above findings, which was confirmed by renal biopsy. An Ear, Nose, and Throat (ENT) examination showed moderate-to-severe sensorineural hearing loss in both ears. After opinions were obtained from the nephrologist, ENT, and the physician, the patient was posted for right eye phacoemulsification with foldable posterior chamber intraocular lens [Figure 4]. After three months of follow up, the patient's right eye vision improved to 6/9.
Figure 1: Left eye shows oil drop sign in retroillumination

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Figure 2: Left eye lens shows anterior projection of the anterior part of the lens

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Figure 3: Right eye shows posterior chamber intraocular lens with posterior capsular opacification.

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Figure 4: Fundus shows macular fl ecks

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  Discussion Top

In 1927, Cecil A. Alport described three generations of a family with combinations of progressive hereditary nephritis and deafness. [2] Hereditary nephritis or the Alport syndrome is an inherited disease characterized clinically by progressive kidney disease accompanied with sensorineural hearing loss and ocular abnormalities. With an incidence of 1 in 50,000 live births [3] the Alport syndrome accounts for 0.3 to 2.3% of end-stage kidney disease. The mode of inheritance is X-linked in 80%, autosomal recessive in 15%, and autosomal dominant in 5%. [4] It is caused by mutations in the COL4A5 collagen gene, giving rise to defective type IV collagen, which is a major structural component of the basement membranes in the renal glomeruli, cochlea, and lens. [5] Sensorineural deafness occurs in approximately 80% of the cases and ocular findings have been reported in roughly 40%. Gregory et al., describe the following diagnostic criteria for the Alport syndrome:

  1. Family history of nephritis with unexplained hematuria;
  2. Persistent hematuria without evidence of other renal problems;
  3. Bilateral sensorineural hearing loss up to 2000 - 8000 Hz;
  4. Mutation in the COL4A5 gene;
  5. Immunohistochemical evidence of complete lack of the Alport epitope in the glomerular basement membrane (GBM);
  6. GBM thinning or splitting;
  7. Ocular lesions like anterior lenticonus, posterior subcapsular cataract, posterior polymorphous corneal dystrophy, and retinal flecks;
  8. Progression to end-stage renal disease (ESRD) in at least two family members;
  9. Macrothrombocytopenia; and
  10. Diffuse leuomyomatosis of the esophagus or female genitalia. Out of the 10, at least four findings must fulfill the criteria, for diagnosis of the Alport syndrome. [5],[6]

The Alport syndrome is confirmed with renal biopsy in the immunohistochemical methods. [7] Antibodies are used to detect the presence or absence of alpha 3, alpha 4, and alpha 5 in chains of the type 4 collagen. [8] There is no definite treatment for the Alport syndrome. Angiotensin-Converting-Enzyme (ACE) inhibitors have been used to treat hypertension and reduce proteinuria. [9] In patients with ESRD, both dialysis and transplantation are done. Gene therapy for the Alport syndrome is being studied. Animal studies are underway, to evaluate delivery of the human alpha-5 (IV) chain of GBM in a canine model of the X-linked Alport syndrome. [10]

  Conclusion Top

It is important to diagnose the Alport syndrome in the early stage of the disease and it should be effectively managed by a combined approach from the nephrologist, the ENT, and the ophthalmologist. Early ophthalmological intervention should be carried out for better visual prognosis.

  References Top

Hudson BG. The molecular basis of Goodpasture and Alport syndromes: Beacons for the discovery of the col-lagen IV family. J Am Soc Nephrol 2004;15:2514-27.  Back to cited text no. 1
Alport AC. Hereditary familial congenital hemorrhagic nephritis. Br Med J 1927;1:504-6.  Back to cited text no. 2
Available from: http://www.emedicine.medscape.com/article/981126-overview. [Last accessed on 2014 Jan 8].  Back to cited text no. 3
Mukerji N, Dodson K. X-linked Alport syndrome: A case report. Internet J Nephrol 2003;1:42.  Back to cited text no. 4
Gregory MC, Terreros DA, Barker DF, Fain PN, Denison JC, Atkin CL. Alport syndrome-clinical phenotypes, incidence, and pathology. Contrib Nephrol 1996;117:1-28.  Back to cited text no. 5
Mazzarella V, Splendiani G, Tozzo C, Tisone G, Pisani F, Iaria G, et al. Renal transplantation in patients with hereditary kidney disease: Our experience. Contrib Nephrol 1997;122:203-6.  Back to cited text no. 6
Heikkilä P, Tryggvason K, Thorner P. Animal models of Alport syndrome: Advancing the prospects for effective human gene therapy. Exp Nephrol 2000;8:1-7.  Back to cited text no. 7
Vedantham V, Rajagopal J, Ratnagiri PK. Bilateral simultaneous anterior and posterior lenticonus in Alport′s syndrome. Indian J Ophthalmol 2005;53:212-3.  Back to cited text no. 8
[PUBMED]  Medknow Journal  
Kanski JJ. Developmental Malformations and Anomalies: Lenticonus and Lentiglobus. Clinical Ophthalmology: A Systematic Approach. 6 th ed. Philadelphia, PA: Elsevier; 2007. p. 661.  Back to cited text no. 9
Prasad RA, Bhatnagar RK, Ratnakar C, Veliath AJ. Alport′s syndrome: A case report. Indian J Pathol Microbiol 1996;39: 225-7.  Back to cited text no. 10
[PUBMED]  Medknow Journal  


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