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International Albinism Center

OPHTH International Albinism children

What is the purpose of the International Albinism Center (IAC)?

  • Provide best possible clinical care for individuals with known or suspected diagnosis of albinism
  • Provide counseling and support for individuals with albinism and their families
  • Conduct clinical research to better understand the multiple aspects of albinism
  • Educate physicians and other health care professionals about albinism

The IAC was developed through the collaboration of Dr. Richard King (geneticist) and Dr. Gail Summers (pediatric ophthalmologist).  Their collaboration in the field of albinism began in 1984.  The Center is recognized as a leader in the field of albinism.  Patients from around the world are seen in the Department of Ophthalmology at the University of Minnesota.  Many have participated in clinical research projects that have helped to answer critical questions about the effects of albinism, in addition to diagnosis and treatment (see publications below).  Doctors work with orthoptists (professionals in evaluating pediatric and adult patients), a low vision specialist, genetic counselors, and a research scientist.

How can I support research and education in albinism?

The Minnesota Lions and Research to Prevent Blindness, Inc. have supported the IAC over the years.  In addition, a fund to learn more about albinism and its treatment has been established by the generosity of a family with children with albinism.  This fund supports not only research in albinism, but education of ophthalmologists and other health care professionals.  To make a gift to the fund, please contact the Minnesota Medical Foundation.  We are extremely grateful for the generous support of our work devoted to albinism.

How can I make an appointment?

To make an appointment in the IAC, please contact our scheduling office at 612-625-4400 or 1-800-937-4393.  Ask for an appointment in Genetics Eye Clinic or in Pigment Clinic if you wish to see a geneticist in addition to Dr. Summers at the same visit.  We look forward to seeing you!

Featured Patients

Taylor Kahnke

Riley and Sara Wheaton

Publications:

Kutzbach B, Summers CG, Holleschau AM, King RA, MacDonald JT:  Attention deficit hyperactivity disorder in children and adults with albinism.  (In press, J of Child Neurology)

King RA, Oetting WS, Summers CG, Creel DJ, Hearing VJ.  Abnormalities of Pigmentation.  In: Rimoin DL, Connor JM, Pyeritz RE, Korf BR, eds:  Emery and Rimoin's Principles and Practice of Medical Genetics, 5th ed., New York:  Churchill Livingstone Elsevier, 2007; v. 3, pp. 3380-427.

Louwagie CR, Jensen AA, Christoff A, Holleschau AM, King RA, Summers CG:  Correlation of grating acuity with letter recognition acuity in children with albinism.  J AAPOS 10:168-72, 2006.

Anderson J, Lavoie J, Merrill K, King RA, Summers CG:  Efficacy of spectacles in persons with albinism.  J AAPOS 8:515-20, 2004.

Merrill K, Lavoie JD, Summers CG:  Positive angle kappa in albinism.  J AAPOS 8:237-9, 2004.

King RA, Pietsch J, Fryer JP, Savage S, Brott MJ, Russell-Eggitt I, Summers CG, Oetting WS:  Tyrosinase gene mutations in oculocutaneous albinism 1 (OCA1): Definition of the phenotype.  Hum Gene T 113:502-13, 2003.

King RA, Willaert RK, Schmidt RM, Pietsch J, Savage S, Brott MJ, Fryer JP, Summers CG, Oetting WS:  MC1R Mutations modify the classic phenotype of oculocutaneous albinism type 2 (OCA 2).  Am J Hum Genet 73:638-645, 2003.

Whang SJ, King RA, Summers CG:  Grating acuity in albinism in the first three years of life.  J AAPOS 6:343-6, 2002.

Lee KA, King RA, Summers CG:  Stereopsis in patients with albinism: Clinical correlates.  J AAPOS 5:98-104, 2001.

Davitt BV, Summers CG:  Congenital iris ectropion associated with ocular albinism, foveal hypoplasia and keratoconjunctivitis sicca.  J AAPOS 1:180-2, 1997.

Summers CG:  Vision in albinism.  Trans Am Ophthal Soc 94:1095-155, 1996.

Summers CG, Oetting WS, King RA:  Diagnosis of oculocutaneous albinism with molecular analysis.  Am J Ophthalmol 121:724-26, 1996.

Oetting WS, Summers CG, King RA:  Albinism and the associated ocular defects.  Metabolic, Pediatric and Systemic Ophthalmology 17:5-9, 1995.

Summers CG, King RA:  Ophthalmic features of minimal pigment oculocutaneous albinism.  Ophthalmology 101:906-14, 1994.

Oetting WS, Fryer JP, Oofuji Y, Middendorf LR, Brumbaugh JA, Summers CG, King RA:  Analysis of tyrosinase gene mutations using direct automated infrared fluorescence DNA sequencing of amplified exons.  Electrophoresis 15:159-64, 1994.

Summers CG, Creel D, Townsend D, Handoko H, King RA:  Variable expression of vision in sibs with albinism.  Am J Med Genetics 40:327-31, 1991.

Oetting WS, Mentink MM, Summers CG, Lewis RA, White JG, King RA:  Three different frameshift mutations of the tyrosinase gene in type 1A oculocutaneous albinism.  Am J Hum Genet 49:199-206, 1991.

King RA, Townsend D, Oetting W, Summers CG, Olds DP, White JG, Spritz R:  Temperature-sensitive tyrosinase associated with peripheral pigmentation in oculocutaneous albinism.  J Clin Invest 87:1046-53, 1991.

Creel DJ, Summers CG, King RA:  Visual anomalies associated with albinism.  Ophthal Paediatrics and Genetics 11:193-200, 1990.

Summers CG, Knobloch WH, King RA, Witkop CJ Jr:  Hermansky-Pudlak syndrome: Ophthalmic findings.  Ophthalmology 95:545-54, 1988.



 
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