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Home » NEI Laboratories » Pediatric, Developmental and Genetic Ophthalmology

Pediatric, Developmental and Genetic Ophthalmology

Current Research

Uveal coloboma is a potentially blinding, developmental abnormality of the eye caused by failure of the optic fissure to close during the 5th week of human gestation. The purpose of our clinical and basic research is to better understand the genetic and developmental mechanisms of optic fissure closure. Our short-term goal is to provide better diagnostics and genetic counseling for our patients; our long-term goal is to find preventions and/or treatments for this condition. Our approach is summarized in the following figure:

Our clinical studies are focused on understanding how patients with coloboma see and what, if any, associated clinical conditions they might have.  Using state-of-the-art diagnostic equipment, we are trying to better understand the anatomy of eyes and the visual pathways of patients with coloboma.  We are also collecting detailed clinical and epidemiology information.

Our clinical studies are focused on understanding how patients with coloboma see and what, if any, associated clinical conditions they might have. Using state-of-the-art diagnostic equipment, we are trying to better understand the anatomy of eyes and the visual pathways of patients with coloboma. We are also collecting detailed clinical and epidemiology information.

Using the tools of Mendelian and complex genetics, we are also searching for genes important in optic fissure closure in humans. We are also using mouse models to better understand how genes are regulated during the course of optic fissure closure. Specific mutant mouse strains are also being investigated to discover genes that might cause coloboma in humans.

Staff

Name Title E-Mail
Brian Brooks, MD
PubMed Aurhor Search
Pediatric Ophthalmologist brooksb@nei.nih.gov
Delphine Blain, MS, MBA Genetic Counselor db417p@nih.gov
Prasad Alur, Ph.D. Lab Manager ra215u@nih.gov
Jacob Brown, MD, Ph.D. IRTA brownjd@nei.nih.gov
Felix Onojafe, D.V.M. Senior Lab Technician onojafef@mail.nih.gov
Casey Ferguson, RN Nurse Coordinator cferguson1@nei.nih.gov

Recent Publications

  1. Brooks BP, Moroi SE, Downs CA, Wiltse S, Othman MI, Semina EV, Richards JE. A novel mutation in the PITX2 gene in a family with Axenfeld-Rieger syndrome. Ophthalmic Genetics. 25:57-62 (2004).
  2. Brooks BP, Kleta R, Caruso RC, Stuart C, Ludlow J, Stratakis CA. Triple-A syndrome with prominent ophthalmic features and a novel mutation in the AAAS gene: a case report. BMC Ophthalmology. 4:7 (2004).
  3. Espinoza MH, Ganga M, Vadlamudi U, Martin DM, Brooks BP, Semina EV, Murray JC, Amendt BA. Protein kinase C phosphorylation modulates N- and C-terminal regulatory activities of the PITX2 homoedomain protein. Biochemistry. 44:3942-3954. (2005).
  4. Brooks BP, Kleta R, Stuart C, Tuchman M, Jeong A, Stergiopoulous S, Bei T, Bjornson B, Russel L, Chanoine JP, Tsagarakis S, Kalsner LR, Stratakis CA. Genetic heterogeneity and clinical phenotype in triple-A syndrome: a review of the NIH experience 2000-2005. Clin Genetics. 68:215-221. (2005).
  5. Huizing M, Brooks BP, Anikster Y. Optic atrophies in metabolic disorders. Mol Genet Metab. 86:51-60 (2005).
  6. Huizing M, Brooks BP, Anikster Y. Optic neuropathies in inherited metabolic disorders. Ped Endocrin Rev. 3:97-103 (2005).
  7. Alur RP, Brooks BP. Clinical and genetic analysis of coloboma: a review. Asian J Exp Sci. 20:1-15. (2006).
  8. Brooks BP, Meck JC, Bendavid C, Haddad B, Blain D, Toretsky JA. Unbalanced 16p;13q translocation in a patient with factor VII deficiency and developmental abnormalities. BMC Medical Genetics. 7:2 (2006).
  9. Tang J, Gokhale PA, Brooks SE, Blain D, Brooks BP. Increased corneal thickness in patients with ocular coloboma. J-AAPOS. 10:175-7 (2006).
  10. Chang L, Blain D, Bertuzzi S, Brooks BP. Uveal coloboma: clinical and basic science update. Current Opinions in Ophthalmology. 17::447-70 (2006).
  11. Blain D and Brooks BP. Molecular testing and genetic counseling in ophthalmology. Archives of Ophthalmology. 125:196-203 (2007).
  12. Kraemer KH, Patronas NJ, Schiffmann R, Brooks BP, Tamura D, Digiovanna JJ. Xeroderma pigmentosum, trichothiodystrophy, and Cockayne syndrome: A complex genotype-phenotype relationship. Neuroscience. 145:1388-96 (2007).
  13. Brooks BP, Larson DM, Chan CC, Kjellstron S, Smith RS, Crawford MA, Lamoreux L, Huizing M, Hess R, Jiao X, Hejtmancik FJ, Maminishkis A, John SWM, Bush R, Pavan WJ. Analysis of ocular hypopigmentation in Rab38cht/cht mice. Inv Ophthal Vis Sci. In press, August 2007.
  14. Alur RR, Cox TA, Crawford MA, Gong X, Brooks BP. Optic nerve axon number in mouse is regulated by Pax2. J-AAPOS. In press. August 2007.
  15. Blain D and Brooks BP. Molecular testing and genetic counseling in ophthalmology. Archives of Ophthalmology. 125:196-203 (2007).
  16. Kraemer KH, Patronas NJ, Schiffmann R, Brooks BP, Tamura D, Digiovanna JJ. Xeroderma pigmentosum, trichothiodystrophy, and Cockayne syndrome: A complex genotype-phenotype relationship. Neuroscience. 145:1388-96 (2007).
  17. Brooks BP, Larson DM, Chan CC, Kjellstron S, Smith RS, Crawford MA, Lamoreux L, Huizing M, Hess R, Jiao X, Hejtmancik FJ, Maminishkis A, John SWM, Bush R, Pavan WJ. Analysis of ocular hypopigmentation in Rab38cht/cht mice. Inv Ophthal Vis Sci. 48:3905-13 (2007).
  18. MacDonald IM, Brooks BP, Sieving PA. Eyeing a new network. Science. 318:1068 (2007)
  19. Doherty ES, Lacbawan F, Hadley DW, Brewer C, Zalewski C, Kim HJ, Glass P, Solomon B, Rosenbaum K, Domingo DL, Hart TC, Brooks BP, Immken L, Lowry RB, Kimonis V, Shanske AL, Knightly C, McDonald-McGinn Dm Zackai EH, Muenke M. Muenke syndrome (FGFR3-relate-craniosynostosis). Expansion of the phenotype and literature review. Am J Med Genetc. 143:3204-15 (2007)
  20. Goodwin H, Brooks BP, Porter FD. Acute postnatal cataract formation in Smith-Lemli-Opitz Syndrome. Am J Med Gene, A. 146:208-11 (2008).
  21. Alur RR, Cox TA, Crawford MA, Gong X, Brooks BP. Optic nerve axon number in mouse is regulated by Pax2 in mouse. J-AAPOS. In press. January 2008.
  22. Meredith M, Gordon L, Clauss S, Sachdev V, Smith A, Perry M, Brewer C, Zalewski C, Kim J, Solomon B, Brooks BP, Gerber L, Turner M, Domingo D, Hart TC, Graf J, Reynolds J, Gropman A, Yanovski J, Collins F, Nabel E, Cannon R, Gahl W, Introne W. Comprehensive evaluation of patients with Hutchinson-Gilford progeria syndrome. In press, NEJM, January 2008.
  23. Brooks BP, MacDonald IM, Tumminia SJ, Smaoui N, Blain D, Nezhuvingal AA, Sieving PA. Genomics in the Era of Molecular Ophthalmology: Reflections on the National Ophthalmic Disease Genotyping Network (eyeGENETM). In press, Archives of Ophthalmology. In press, January 2008.

 

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This page was last modified in October 2008

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