Subscribe to RSS
Familial Congenital Megalocornea and Spherophakia: A Case SeriesFamiliäre kongenitale Megalokornea und Sphärophakie: eine Fallserie
Megalocornea is a rare, nonprogressive, congenital defect characterized by enlargement of the corneal diameter greater than 13 mm at birth. The involvement is typically bilateral but can be asymmetric. The anterior segment is widened at the expense of the vitreous length and the intraocular pressure is normal. The defect falls into the category of anterior segment dysgenesis and may be associated with several other conditions, including arcus lipoides, mosaic corneal dystrophy, or iris atrophy and transillumination. The disease is generally asymptomatic in childhood, although the astigmatism due to the large cornea can lead to blurred vision. Nevertheless, patients with megalocornea are prone to zonular deficiencies and subluxation of the lens. Adults may experience premature nuclear sclerotic cataract formation, typically between the ages of 30 and 50 , .
Megalocornea was first described in 1869, but the genetic basis of this disease has only been elucidated in the past decade. In 90% of the cases, males are affected, since the observed inheritance pattern is predominantly x-linked . In early childhood its differentiation from glaucoma-associated buphthalmos can be challenging , . In some patients, megalocornea may also be associated with different congenital syndromes such as Marfan syndrome, or Neuhauser syndrome (megalocornea-mental retardation syndrome) , .
Received: 01 July 2020
Accepted: 06 January 2021
22 February 2021 (online)
© 2021. Thieme. All rights reserved.
Georg Thieme Verlag KG
Rüdigerstraße 14, 70469 Stuttgart, Germany
- 1 Moshirfar M, Hastings J, Ronquillo Y. Megalocornea. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2020. Accessed April 28, 2020 at: https://www.ncbi.nlm.nih.gov/books/NBK554374/
- 2 Khan AO. Conditions that can be mistaken as early childhood glaucoma. Ophthalmic Genet 2011; 32: 129-137
- 3 Messina M, Ross AR, Pocobelli G. et al. Cataract surgery with intraocular lens implantation in 3 brothers with megalocornea: long-term follow-up. J Cataract Refract Surg 2018; 44: 399-402
- 4 Ko F, Papadopoulos M, Khaw PT. Primary congenital glaucoma. Prog Brain Res 2015; 221: 177-189
- 5 Ho CL, Walton DS. Primary megalocornea: clinical features for differentiation from infantile glaucoma. J Pediatr Ophthalmol Strabismus 2004; 41: 11-17
- 6 Antiñolo G, Rufo M, Borrego S. et al. Megalocornea-mental retardation syndrome: an additional case. Am J Med Genet 1994; 52: 196-197
- 7 Khan AO, Aldamesh MA, Alkuraya FS. Congenital megalocornea with zonular weakness and childhood lens-related secondary glaucoma – a distinct phenotype caused by recessive LTBP2 mutations. Mol Vis 2011; 17: 2570-2579
- 8 De la Parra-Colín P, Barrientos-Gutierrez T, Mian SI. Axial lengthʼs role in intraocular lens power calculation error in X-linked megalocornea: a case-series analysis. Ophthalmic Genet 2014; 35: 180-183
- 9 Saffra N, Rakhamimov A, Masini R. et al. Anterior chamber iris claw lens for the treatment of aphakia in a patient with megalocornea. Case Rep Ophthalmol 2015; 6: 164-169
- 10 Saffra N, Rakhamimov A, Masini R. et al. Contact lens correction for an aphakic patient with megalocornea. Cont Lens Anterior Eye 2014; 37: 317-319