Abstract
Photic induced sneeze is a reflex that occurs in certain individuals after exposure to bright light. Cystinosis is an autosomal recessive inborn error of metabolism in which nonprotein cystine accumulates within lysosomes. The pathognomonic ocular manifestation of cystinosis is corneal crystal deposition. We observed photic induced sneezes during ophthalmoscopic examination in five of 19 patients with nephropathic cystinosis (26%). We report on this observation and discuss possible pathophysiological mechanisms for photic induced sneezing in cystinosis.
Full text
PDF
Selected References
These references are in PubMed. This may not be the complete list of references from this article.
- Collie W. R., Pagon R. A., Hall J. G., Shokeir M. H. ACHOO syndrome (autosomal dominant compelling helio-ophthalmic outburst syndrome). Birth Defects Orig Artic Ser. 1978;14(6B):361–363. [PubMed] [Google Scholar]
- EVERETT H. C. SNEEZING IN RESPONSE TO LIGHT. Neurology. 1964 May;14:483–490. doi: 10.1212/wnl.14.5.483. [DOI] [PubMed] [Google Scholar]
- François J., Hanssens M., Coppieters R., Evens L. Cystinosis. A clinical and histopathologic study. Am J Ophthalmol. 1972 May;73(5):643–650. [PubMed] [Google Scholar]
- Jonas A. J., Smith M. L., Schneider J. A. ATP-dependent lysosomal cystine efflux is defective in cystinosis. J Biol Chem. 1982 Nov 25;257(22):13185–13188. [PubMed] [Google Scholar]
- KOFMAN O. PAROXYSMAL SNEEZING. Can Med Assoc J. 1964 Jul 25;91:154–157. [PMC free article] [PubMed] [Google Scholar]
- Katz B., Melles R. B., Schneider J. A. Corneal sensitivity in nephropathic cystinosis. Am J Ophthalmol. 1987 Oct 15;104(4):413–416. doi: 10.1016/0002-9394(87)90233-9. [DOI] [PubMed] [Google Scholar]
- Peroutka S. J., Peroutka L. A. Autosomal dominant transmission of the "photic sneeze reflex". N Engl J Med. 1984 Mar 1;310(9):599–600. [PubMed] [Google Scholar]
- Ross D. L., Strife C. F., Towbin R., Bove K. E. Nonabsorptive hydrocephalus associated with nephropathic cystinosis. Neurology. 1982 Dec;32(12):1330–1334. doi: 10.1212/wnl.32.12.1330. [DOI] [PubMed] [Google Scholar]
- SEDAN J. Réflexe photo-sternutatoire. Rev Otoneuroophtalmol. 1954;26(2):123–126. [PubMed] [Google Scholar]
- Sanderson P. O., Kuwabara T., Stark W. J., Wong V. G., Collins E. M. Cystinosis. A clinical, histopathologic, and ultrastructural study. Arch Ophthalmol. 1974 Apr;91(4):270–274. doi: 10.1001/archopht.1974.03900060280006. [DOI] [PubMed] [Google Scholar]
- Trauner D. A., Chase C., Scheller J., Katz B., Schneider J. A. Neurologic and cognitive deficits in children with cystinosis. J Pediatr. 1988 Jun;112(6):912–914. doi: 10.1016/s0022-3476(88)80214-2. [DOI] [PubMed] [Google Scholar]
- Wirtschafter J. D., Bourassa C. M. Binocular facilitation of discomfort with high luminances. Arch Ophthalmol. 1966 May;75(5):683–688. doi: 10.1001/archopht.1966.00970050685020. [DOI] [PubMed] [Google Scholar]