Journal of The Korean Society of Inherited Metabolic disease (대한유전성대사질환학회지)

The Korea Society of Inherited Metabolic Disease (대한유전성대사질환학회)
권호 표지

Inherited Metabolic Disorders Involving the Eye

유전성대사질환에서 눈이상

  • Jae Ho, Jung (Department of Ophthalmology, Seoul National University Hospital)
  • Published : 2022.12.30
Download PDF
⟨ Previous Next ⟩

Abstract

Inherited metabolic disorders (IMD) are a large group of rare disorders affecting normal biochemical pathways. The ophthalmic involvement can be very varied affecting any part of the eye, including abnormalities of cornea, lens dislocation and cataracts, retina and the optic nerve, and extraocular muscles. Eye disorders can be initial symptoms of some IMD and can be clue for diagnosis of IMD. However, eye disorders can evolve later in the natural history of an already diagnosed metabolic disorder. Awareness of IMDs is important to facilitate early diagnosis and in some cases instigate early treatment if a patient presents with eye involvement suggestive of a metabolic disorder. Ophthalmological interventions are also an important component of the multisystem holistic approach to treating patients with metabolic disorders.

Keywords

References

  1. Rajappa M, Goyal A, Kaur J. Inherited metabolic disorders involving the eye: A clinico-biochemical perspective. Eye 2010;24:507-18. https://doi.org/10.1038/eye.2009.229
  2. Davison JE. Eye involvement in inherited metabolic disorders. Ther Adv Ophthalmol 2020;12:251584142 097910. https://doi.org/10.1177/2515841420979109
  3. Eklund EA, Freeze HH. The congenital disorders of glycosylation: a multifaceted group of syndromes. NeuroRx 2006;3:254-63. https://doi.org/10.1016/j.nurx.2006.01.012
  4. Harris CM, Taylor DS, Vellodi A. Ocular motor abnormalities in Gaucher disease. Neuropediatrics 1999; 30:289-93. https://doi.org/10.1055/s-2007-973507
  5. Blundell J, Frisson S, Chakrapani A, Gissen P, Hendriksz C, Vijay S, et al. Oculomotor abnormalities in children with Niemann-Pick type C. Mol Genet Metab 2018;123:159-68.
  6. Rabinowitz LG, Williams LR, Anderson CE, Mazur A, Kaplan P. Painful keratoderma and photophobia: hallmarks of tyrosinemia type II. J Pediatr 1995;126: 266-9. https://doi.org/10.1016/S0022-3476(95)70558-9
  7. Mehta A, Beck M, Eyskens F, Feliciani C, Kantola I, Ramaswami U, et al. Fabry disease: a review of current management strategies. QJM 2010;103:641-59. https://doi.org/10.1093/qjmed/hcq117
  8. Dureau P, Broyer M, Dufier JL. Evolution of ocular manifestations in nephropathic cystinosis: a long-term study of a population treated with cysteamine. J Pediatr Ophthalmol Strabismus 2003;40:142-6. https://doi.org/10.3928/0191-3913-20030501-07
  9. Ferrari S, Ponzin D, Ashworth JL, Ashworth JL, Fahnehjelm KT, Summers CG, et al. Diagnosis and management of ophthalmological features in patients with mucopolysaccharidosis. Br J Ophthalmol 2011;95: 613-9. https://doi.org/10.1136/bjo.2010.179937
  10. Ram J, Gupta A. Kayser-Fleischer ring and sunflower cataract in Wilson disease. JAMA Ophthalmol 2014;132:873. https://doi.org/10.1001/jamaophthalmol.2013.4027
  11. Esfandiari H, Ansari S, Mohammad-Rabei H, Mets MB. Management Strategies of Ocular Abnormalities in Patients with Marfan Syndrome: Current Perspective. J Ophthalmic Vis Res 2019;14:71-7. https://doi.org/10.4103/jovr.jovr_29_18
  12. Rahman M, Sharma M, Aggarwal P, Singla S, Jain N. Homocystinuria and ocular complications - A review. Indian J Ophthalmol 2022;70:2272-8. https://doi.org/10.4103/ijo.IJO_309_22
  13. Khokhar SK, Pillay G, Dhull C, Agarwal E, Mahabir M, Aggarwal P. Pediatric cataract. Indian J Ophthalmol 2017;65:1340-9. https://doi.org/10.4103/ijo.IJO_1023_17
  14. Vetter V, Shin YS. Lens sorbitol dehydrogenase deficiency in a patient with congenital cataract. Eur J Pediatr 1995;154:389-91. https://doi.org/10.1007/BF02072111
  15. Shen O, Michaelson-Cohen R, Gross-Tsur V, Eilat A, Yanai N, Green T, et al. Prenatal observation of nystagmus, cataracts, and brain abnormalities in a case of Zellweger spectrum disorder syndrome. Prenat Diagn 2016;36:894-5.
  16. Bose M, Yergeau C, D'Souza Y, Cuthbertson DD, Lopez MJ, Smolen AK, et al. Characterization of Severity in Zellweger Spectrum Disorder by Clinical Findings: A Scoping Review, Meta-Analysis and Medical Chart Review. Cells 2022;11.
  17. Chhapan RJ, Yerramneni R, Ramappa M. Diagnosing the oil drop: A case report and review of the literature. Indian J Ophthalmol 2019;67:1705-6. https://doi.org/10.4103/ijo.ijo_2022_18
  18. Beigi B, O'Keefe M, Bowell R, Naughten E, Badawi N, Lanigan B. Ophthalmic findings in classical galactosaemia--prospective study. Br J Ophthalmol 1993; 77:162-4. https://doi.org/10.1136/bjo.77.3.162
  19. Tomatsu S, Pitz S, Hampel U. Ophthalmological Findings in Mucopolysaccharidoses. J Clin Med 2019;8
  20. Huemer M, Diodato D, Schwahn B, Schiff M, Bandeira A, Benoist, JF, et al. Guidelines for diagnosis and management of the cobalamin-related remethylation disorders cblC, cblD, cblE, cblF, cblG, cblJ and MTHFR deficiency. J Inherit Metab Dis 2017;40:21-48. https://doi.org/10.1007/s10545-016-9991-4
  21. Chang X, Zhang J, Jiang Y, Wang J, Wu Y. Natural history and genotype-phenotype correlation of pantothenate kinase-associated neurodegeneration. CNS Neurosci Ther 2020;26:754-61. https://doi.org/10.1111/cns.13294
  22. Chen H, Chan AY, Stone DU, Mandal NA. Beyond the cherry-red spot: Ocular manifestations of sphingolipid-mediated neurodegenerative and inflammatory disorders. Surv Ophthalmol 2014;59:64-76. https://doi.org/10.1016/j.survophthal.2013.02.005
  23. Davison JE, Rahman S. Recognition, investigation and management of mitochondrial disease. Arch Dis Child 2017;102:1082-90. https://doi.org/10.1136/archdischild-2016-311370
  24. Davila-Siliezar P, Carter M, Milea D, Lee AG. Leber hereditary optic neuropathy: new and emerging therapies. Curr Opin Ophthalmol 2022;33:574-8. https://doi.org/10.1097/ICU.0000000000000891