Rare Ocular Manifestation with Suspect Alport Syndrome

Česká verze

Authors: I. Krejčířová ¹; B. Varadyová ¹; Z. Doležel ²; R. Autrata ¹; J. Matušová ³; E. Gregorová ³
Authors place of work: Dětská oční klinika, Fakultní nemocnice, Brno, přednosta prof. MUDr. Rudolf Autrata, CSc., MBA ¹; Pediatrická klinika, Fakultní nemocnice, Brno, přednosta prof. MUDr. Zdeněk Doležel, CSc. ²; Klinika nemocí očních a optometrie, Fakultní nemocnice U sv. Anny, Brno, přednosta doc. MUDr. Svatopluk Synek, CSc. ³
Published in the journal: Čes. a slov. Oftal., 70, 2014, No. 3, p. 114-118
Category: Kazuistika

Summary

The authors mention a case report of a 13 year old girl with renal disease, who visited the outpatient Department of Pediatric Ophthalmology, University Hospital Brno with subjective complaints on decreased vision of both eyes.

Ophthalmologic examination showed physiological foveolar reflex on fundus and very discrete changes of the retinal pigment epithelium in macula, the fundus periphery was without pathology.

OCT images showed bilateral atrophy of central macula and changes at the level of the photoreceptors.

The authors describe a rare ocular manifestation of macular atrophy with suspect Alport syndrome, which strengthened the suspicion of this disease.

The authors also mention other possible ocular manifestations of Alport syndrome and compare the findings with the up to date international references.

Key words:
Alport syndrome, X heterozygot Alport syndrome, macular atrophy, lentikonus

Zdroje

1. Altemir, I. et al.: Reproducibility of optical coherence tomography measurements in children. Am J Ophthalmol, 2013 Jan; 155(1): 171–176.

2. Colville, D., Wang, YY., Tan, R. et al.: The retinal “lozenge” or “dull macular reflex” in Alport syndrome may be associated with a severe retinopathy and early-onset renal silure, Br J Ophthalmol, 2009; 93(3): 383–6.

3. Češka, R., Tesař, V., Dítě, P. et al.: Interna, 1. vydání, Praha: TRITON, 2010, 855, s. 541–542.

4. Dolz-Marco, R., Gallego-Pinazo, R., Francés-Munoz, E., et al.: New macular tomography findings in Alport syndrome. Arch Soc Esp Oftalmol, 2012; 87(2): 55–6.

5. Eriksson, U., Holmstrom, G., Alm, A. et al.: A population-based study of macular thickness in full-term children assessed with Stratus OCT: normative data and repeatability. Acta Ophthalmol, 2009; 87(7): 741–5.

6. Fawzi, AA., Lee, NG., Eliott, D. et al.: Retinal findings in patients with Alport Syndrome: expanding the clinical spektrum. Br J Ophthalmol, 2009;93(12): 1606–11.

7. Hentati, N., Sellami, D., Makni, K., et al.: Ocular findings in Alport syndrome: 32 case studies. J Fr Ophtalmol, 2008; 31: 597–604.

8. Igami, TZ., Lavezzo, MM., Ferraz, DA., et. al: Unusual macular thickness in Alport syndrome: case report. Arq Bras Oftalmol, 2012; 75(4): 283–5.

9. Mete, UO., Karaaslan, C., Ozbilgin, MK., et al.: Alport’s syndrome with bilateral macular hole, Acta Ophthalmol Scand., 1996;74(1):77–80.

10. Mercé, E., Korobelnik, JF., Delyfer, MN., et al.: A new case of giant macular hole in a patient with Alport syndrome. J Fr Ophthalmol, 2012; 35(8): 573–9.

11. Povýšil, C., Šteiner, I., Dušek, P., et al.: Speciální patologie. 2 vydání, Praha: Galén: Karolinum, 2007, 430.

12. Rheault, MN.: Women and Alport syndrome. Pediatr Nephrol, 2012; 27(1): 41-6.

13. Savige, J., Liu, J., DeBuc, DC., et al.: Retinal basement membrane abnormalities and the retinopathy of Alport syndrome. Invest Ophthalmol Vis Sci., 2010; 51(3): 1621–7.

14. Setälä, K., Ruusuvaara, P.: Alport syndrome with hereditary macular degeneration. Acta Ophthalmol (Copenh),1989; Aug;67(4): 409–14.

15. Spraul, CW., Lang, GE.: Cone dystrophy associated with Alport syndrome. Klin Monbl Augenheilkd, 2000 Sep; 217(3): 194–7.

16. Usui, T., Ichibe, M., Hasegawa, S., et al.: Symmetrical reduced retinal thickness in a patient with Alport syndrome, Retina, 2004; 24(6): 977–9.

17. Xu, JM., Zhang, SS., Zhang, Q., et al.: Ocular manifestation of Alport syndrome. Int J Ophthalmol, 2010; 3(2): 149–51.

18. Zhang, KW., Colville, D., Tan, R., et al.: The use of ocular abnormalities to diagnose X-linked Alport syndrome in children. Pediatr Nephrol., 2008 Aug; 23(8): 1245–50.

19. Zhao, C., Wang, F., Zhang, Y., et al.: A novel splice site mutation in the COL4A5 gene in a Chinese female patients with rare ocular abnormalities. Mol Vis, 2012; 18: 2205–12.