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LETTER TO THE EDITOR |
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Year : 2015 | Volume
: 8
| Issue : 5 | Page : 682-683 |
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Ophthalmic examination for diagnosis of Alport syndrome
Shrikant Deshpande
Department of Ophthalmology, MGM Medical College, Navi Mumbai, Maharashtra, India
Date of Web Publication | 10-Sep-2015 |
Correspondence Address: Shrikant Deshpande Department of Ophthalmology, MGM Medical College, Kamothe, Navi Mumbai - 410 206, Maharashtra India
Source of Support: None, Conflict of Interest: None | Check |
DOI: 10.4103/0975-2870.164950
How to cite this article: Deshpande S. Ophthalmic examination for diagnosis of Alport syndrome. Med J DY Patil Univ 2015;8:682-3 |
Sir,
We report a case of end-stage renal disease (ESRD) diagnosed as Alport syndrome on the basis of ocular findings. A 35-year-old male presented with chief complaints of progressive loss of vision since 2 years. The visual loss was gradual, progressive and was not associated with any other ocular complaints. The patient had recently undergone renal transplantation for ESRD. The cause of ESRD could not be determined. The patient gave a history of suffering from hematuria since many years. There was no history of hearing impairment.
On refraction, the best corrected visual acuity was 6/18 in right eye and 6/9 in left eye. The slit lamp examination revealed presence of anterior lenticonus (conical protrusion of anterior lens surface) in both eyes and anterior capsular cataract in right eye. Fundus examination showed the presence of flecks in the macular area. A diagnosis of Alport syndrome was made as presence of anterior lenticonus is pathognomonic of Alport syndrome. Preoperative ophthalmic examination would have clinched the diagnosis of Alport syndrome as a cause of ESRD in this patient [Figure 1].
Alport syndrome is an inherited disorder of collagen that affects the kidney, the eye, and the cochlea. It is caused by a genetic defect within one of the alpha chains of the type IV collagen, the major component of basement membranes (BM) in the kidney, inner ear, and eye.[1]
The clinical manifestations of Alport syndrome, include renal failure, anterior lenticonus, and hearing abnormalities. Hematuria is the earliest clinical feature and may start in childhood. Hypertension, proteinuria, and other signs of renal insufficiency may appear as the patients get older ultimately leading to renal failure.[2]
Anterior lenticonus is the pathognomonic feature of Alport syndrome. Anterior lenticonus occurs due to thin and fragile BM of the lens capsule leading to progressive conical protrusion of anterior lens surface. Anterior lenticonus is progressive and leads to gradual reduction of vision requiring frequent changes of glasses. Other ocular manifestations of Alport syndrome include cataract and perimacular retinal flecks. Ocular signs are seen in late stages of Alport syndrome and are associated with worse prognosis.[3],[4]
The purpose of this letter is to highlight the importance of ocular examination in the diagnosis of Alport syndrome, especially in Indian context where facilities of electron microscopy may not be always available.
References | | |
1. | Xu JM, Zhang SS, Zhang Q, Zhou YM, Zhu CH, Ge J, et al. Ocular manifestations of Alport syndrome. Int J Ophthalmol 2010;3:149-51. |
2. | McCarthy PA, Maino DM. Alport syndrome: A review. Clin Eye Vis Care 2000;12:139-50. |
3. | Blaise P, Delanaye P, Martalo O, Pierard GE, Rorive G, Galand A. Anterior lenticonus: Diagnostic aid in Alport syndrome. J Fr Ophtalmol 2003;26:1075-82. |
4. | Seymenoglu G, Baser EF. Ocular manifestations and surgical results in patients with Alport syndrome. J Cataract Refract Surg 2009;35:1302-6. |
[Figure 1]
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