Metabolic diseases and the eye in childhood

Česká verzia

Authors: Anton Gerinec ¹; Dana Tomčíková ¹; Vladimír Krásnik ²
Authors place of work: Klinika detskej oftalmológie LF UK a DFNsP, Bratislava ¹; Klinika oftalmológie LF UK a UNB, Nemocnica Ružinov, Bratislava ²
Published in the journal: Forum Diab 2017; 6(1): 6-10
Category: Topic

Summary

The authors demonstrate different metabolic diseases with ocular symptomatology from their own clinical materials. They emphasize that the patients with these rare diseases frequently come to an ophthalmologist with primarily ocular symptomatology. The metabolic basis is only proven after a child has been referred to other medical specialists, which requires a good knowledge of the ophthalmologist about these disorders. The correct diagnosis and often a speedy treatment are a big help in stabilizing the clinical condition of some metabolic diseases. The management of this class of general diseases requires adequate interdisciplinary cooperation.

Key words:
metabolic diseases, neurodegeneration, lysosomal disorders, peroxisomal disorders

Received:
1. 1. 2017

Accepted:
15. 2. 2017

Zdroje

1. Aragão RE, Ramos RM, Pereira FB et al. ‘Cherry red spot’ in a patient with Tay-Sachs disease: case report. Arq Bras Oftalmol 2009; 72(4): 537–539.

2. Bökenkamp A, Ludwig M. The oculocerebrorenal syndrome of Lowe: an update. Pediatr Nephrol 2016; 31(12): 2201–2212.

3. Gerinec A. Detská oftalmológia. Osveta: Martin 2005. ISBN 80–8063–181–6.

4. Janzen N, Illsinger S, Meyer U et al. Early cataract formation due to galactokinase deficiency: impact of newborn screening. Arch Med Res 2011; 42(7): 608–612. Dostupné z DOI: <http://dx.doi.org/10.1016/j.arcmed.2011.11.004>.

5. Martínez-Gutiérrez JD, Mencía-Gutiérrez E, Gracia-García-Miguel Tet al. Classical familial homocystinuria in an adult presenting as an isolated lens subluxation. Int Ophthalmol 2011; 31(3): 227–232. Dostupné z DOI: <http://dx.doi.org/10.1007/s10792–011–9444-x>.

6. Sanabria D, Groot H, Guzmán J et al. An overview of oculocutaneous albinism: TYR gene mutations in five Colombian individuals. Biomedica 2012; 32(2): 269–276. Dostupné z DOI: <http://dx.doi.org/10.1590/S0120–41572012000300015>.

7. van der Tol L, Sminia ML, Hollak CE et al. Cornea verticillata supports a diagnosis of Fabry disease in non-classical phenotypes: results from the Dutch cohort and a systematic review. Br J Ophthalmol 2016; 100(1): 3–8. Dostupné z DOI: <http://dx.doi.org/10.1136/bjophthalmol-2014–306433>.

8. Tylki-Szymańska A. Mucopolysaccharidosis type II, Hunter’s syndrome. Pediatr Endocrinol Rev 2014; 12(Suppl 1): 107–113.