medigraphic.com
SPANISH

Mediciego

ISSN 1029-3035 (Electronic)
  • Contents
  • View Archive
  • Information
    • General Information        
    • Directory
  • Publish
    • Instructions for authors        
  • medigraphic.com
    • Home
    • Journals index            
    • Register / Login
  • Mi perfil

2012, Number 1

<< Back Next >>

Mediciego 2012; 18 (1)

Atypical retinitis pigmentosa. A case report

Román GC, Román PY, Padierne GO, Hernández CM, Padierne GN, Castro LD
Full text How to cite this article

Language: Spanish
References: 7
Page:
PDF size: 80.65 Kb.


Key words:

retinitis pigmentosa/diagnosis.

ABSTRACT

Retinitis pimentosa is a set of inherited, progressive anomalies that diffuse and primarily affect the photoreceptors and the pigment epithelium, in which the peripheral and night vision is losing resulting ophtalmoscopic features in the retina and which can not show a secondary cause. It is presented the case of a female, white teenager of fifteen years old sending from hers pediatrician to the Retina specialty in Ciego de Avila Ophthalmology Center in September 2010 complaining of bilateral blurred vision that’s been studied several times without any confirmed diagnosis. An interrogation and complete ocular physical examination is carried out. A complete ophthalmic examination was done and a third generation relative affected of retinitis pigmentosa was identified. A fundus examination shows a cellophane membrane with distortion of the thin macular capillary vessels in both eyes, with reflex like “snail track” degeneration and pigmentary epithelium alterations with no pigments in retinal periphery in each eye. The visual field shows a bilateral central and superior scotoma. The electrophysiological test shows an abnormal amplitude rods response, value the electrophysiological and clinic criteria of inverse retinitis pigmentosa.


REFERENCES

  1. Kaplan J, Bonneau D, Frézal J, MunnichA, Dufier JL. Clinical and genetic heterogeneity in retinitis pigmentosa. Human Genet. 1990; 85:635-642.

  2. Cuba. Ministerio de Salud Pública. Programa Nacional de Retinosis Pigmentaria. Reporte Nacional. La Habana: MINSAP; 2010.

  3. Tanino T, Ohba N. Studies on pigmentary retinal dystrophy. Age of onset of subjective symptoms and the mode of Inheritance. Japan J Ophthalmol. 1976; 20:474-481.

  4. Hinton DR. Retinal degenerations and dystrophies. En: Ryan SJ, editor. Basic science and inherited retinal disease and tumors. 4 ed. New York: Mosby; 2006. p. 395-599.

  5. Maubaret C, Hamel C. Genetics of retinitis pigmentosa: metabolic classification and phenotype/genotype correlations. J Fr Ophtalmol. 2005; 28(1):71-92.

  6. Fishman GA, Fishman M, Maggiano J. Macular lesions associated with retinitis pigmentosa. Arch Ophthalmol. 1977; 95:798-803.

  7. Apushkin MA, Fishman GA, Janowicz MJ. Monitoring cystoid macular edema by optical coherence tomography in patients with retinitis pigmentosa. Ophthalmology. 2004; 111(10):1899-904.




2020     |     www.medigraphic.com

Mi perfil

C?MO CITAR (Vancouver)

Mediciego. 2012;18