Sir,
Classically, Alport syndrome is described as a hereditary, multisystem progressive disorder affecting visual, auditory, and renal systems. The disease was initially described by Alport (1927) and then by Arnott.1, 2 In Alport syndrome, posterior lenticonus can coexist along with anterior lenticonus. The reported incidence of this coexistence is around (2.6%).3 The presence of posterior lenticonus along with anterior lenticonus can occur either unilaterally or bilaterally.
Case reports
In this case series, we report the bilateral occurrence of anterior lenticonus and posterior lenticonus in five cases. In addition to the presence of the rare ocular finding, all our cases have marfanoid habitus.4 This concurrence adds to the rarity of the present clinical series.
The clinical details of the cases have been summarized in Tables 1 and 2.
Discussion
Ocular manifestations in Alport syndrome are variable and incidence ranges from 11 to 92%. The coexistence of anterior and posterior lenticonus in the same eye is rare.3 However, in our case series all the patients had bilateral simultaneous anterior and posterior lenticonus (Figure 1a).
Out of our five cases, three had cataract. Two underwent uneventful phacoemulsification with implantation of acrylic intraocular lens with good post-operative outcome. In all our cases, there was a considerable overlap of marfanoid features4 (Table 2, Figure 1b–d). Reports of Marfan syndrome having lenticonus as an ocular feature are described.5 However, no reports of Alport syndrome having phenotypic marfanoid features could be found. The overlap of marfanoid phenotype in Alport syndrome is apparently being reported for the first time.
Our case series highlights that the diagnosis of Alport syndrome is commonly done through ophthalmic portal. Safe and effective phacoemulsification with good visual outcomes is possible in cases with anterior and posterior lenticonus secondary to Alport syndrome. As there is no specific phenotypic description of Alport syndrome in the literature, less attention is paid to the physical features. In our case series we found marfanoid habitus in all cases. So, we recommend a thorough physical examination to look for subtle phenotypic features that can be associated with Alport syndrome. Although genetic analysis is warranted to establish the genotype–phenotype correlation, it was not pursued due to feasibility issues.
References
Arnott EJ, Crawfurd MD, Toghill PJ . Anterior lenticonus and Alport’s syndrome. Br J Ophthalmol 1966; 50 (7): 390–403.
Bhatnagar R, Kumar A, Pakrasi S . Alport’s syndrome–ocular manifestations and unusual features. Acta Ophthalmol (Copenh) 1990; 68 (3): 347–349.
Vedantham V, Rajagopal J, Ratnagiri PK . Bilateral simultaneous anterior and posterior lenticonus in Alport’s syndrome. Indian J Ophthalmol 2005; 53 (3): 212–213.
Grahame R, Hakim AJ . Arachnodactyly–a key to diagnosing heritable disorders of connective tissue. Nat Rev Rheumatol 2013; 9 (6): 358–364.
Junk AK, Stefani FH, Ludwig K . Bilateral anterior lenticonus: Scheimpflug imaging system documentation and ultrastructural confirmation of Alport syndrome in the lens capsule. Arch Ophthalmol 2000; 118 (7): 895–897.
Ades L, CSANZ Cardiovascular Genetics Working Group. Guidelines for the diagnosis and management of Marfan syndrome. Heart Lung Circ 2007; 16: 28–30.
Loeys BL, Dietz HC, Braverman AC, Callewaert BL, De Backer J, Devereux RB et al. The revised Ghent nosology for the Marfan syndrome. J Med Genet 2010; 47 (7): 476–485.
Author information
Authors and Affiliations
Corresponding author
Ethics declarations
Competing interests
The authors declare no conflict of interest.
Additional information
Disclaimer
No author has a financial or proprietary interest in any case report mentioned.
Rights and permissions
About this article
Cite this article
Agrawal, N., Nayak, D., Gupta, P. et al. Alport syndrome with phenotypic marfanoid habitus: atypical case series. Eye 29, 443–444 (2015). https://doi.org/10.1038/eye.2014.289
Published:
Issue Date:
DOI: https://doi.org/10.1038/eye.2014.289