Light-Colored Child Raises Dark Doubts Parents of 3-year-old worry about his poor vision and eyes that ‘shake? By MARK T. DUNBAR, O.D. 3-year-old white male present- A: with his parents for an eye ‘exam, His parents were con- ‘cerned about their child’s vision. They said that he can recognize objects and smiles atthe face of a parent, but he seems to hold objects extremely close. They also said his eyes always shake; this began at about age 3 months. ‘The patient’s medical history is un- remarkable. The child is fair skinned, ‘more so than the parents but not ex- cessively so, He has blond hair and light-colored eyes. He is an only child and according to the parents, there ddoes not seem to be a family history of this condition, Visual acuity measured 20/200 0.U. a distance with familia figures and about 20/80 O.U, at near. Extraocular ‘motility testing revealed horizontal nystagmus in all gazes. He does not display a head-turn, nor does he have a noticeable null point. There isa latent component when either eye is covered. ‘We were able to reverse his nystag- mus on optokinetic (OKN) testing and ‘were able to superimpose the OKN ‘overtop of his nystagmus. His range of motion is full, and he does not have strabismus, The pupils were equally round and reactive, and there was no afferent pupillary defect. Cycloplegic retinoscopy was +2.00D in each eye. “The anterior segment exam was essen- tially unremarkable. Dilated fundus exam revealed an obvious lack of pigmentation within the retinal pigment epithelium (RPE). The choroidal vessels and sclera were easily seen, Other significant findings are shown in the photos. Take the Retina Quiz 1, What is the likely diagnosis for this patient? a. Ocular albinism. b, Oculocutaneous albinism. ¢. Congenital nystagmus. d. Congenital motor nystagmus. - Ta b, Not very likely. c. Very likely. 4, He will probably need special classes for visually impaired children. 5. What is the likely inherited pat- tern for this child’s condition? a. Autosomal dominant, 'b. Autosomal recessive. . Xeinked recessive , There is no inheritance pattern. For answers, go to page 138. Discussion Once we dilated this patient's pupils and looked at his retina, the diagnosis was fairly obvious. The striking lack of pigmentation within the RPE is typical for albinism, Dilated fundus exam (0.D. left, 0.S. right) revealed an obvious lack of pigment in the RPE, Take a careful look at the macula In each eye. 2. What caused his poor vision? a. Lack of pigmentation in the RPE. , Macular hypoplasia. «. Optic nerve hypoplasia. Both a and b. 3, What other exam findings should you expect besides those noted above? a. Megalocorneas. +b. Iris transillumination defects. «. Abnormal angle structure. 4. Both b and c. 4. How likely will the child be main- streamed when he attends school? 2, Too eatly to tell. Albinism represents a hereditary group of disorders characterized by a congenital lack of melanin pigment within the uveal tract. Although al- binism may be isolated to the eye, more typically it involves the skin and hair, a condition known as oculocuta- neous albinism. These patients present with obvious lack of pigmentation in their skin, and their hair has a bleached white appearance. When only the eye is involved, we refer tothe condition as ocular al- binism. The skin and hair may even appear normal, Most cases of ocular albinism are REVIEW OF OPTOMETRY FEBRUARY 15, 2004 197198 REVIEW OF OPTOMETRY inherited as X-linked recessive, although three other types of ‘ocular albinism have been characterized. Up to 10 types of ‘culocutaneous albinism have been classified, so the genetics ofthis disease can be quite complex. Although we classify albinism as ocular or oculocuta- ‘neous, histopathologically, it appears as though there is only ‘one form of the disorder: the oculocutancous form. In the cculocutaneous form, the pigment-containing cells, known a melanosomes, contain melanin, though not very much, In ‘ocular albinism, the skin and eyes contain “macromelano- somes” and type IV melanosomes inthe iris; these allow for the clinical differences between the two groups. Despite clinical variations between the types of albinism, nystagmus and reduced acuity are usually present. Ths is due to the lack of pigmentation within the fundus and mac- ular hypoplasia. Macular hypoplasia isthe most consistent feature of al ism. The macula and fovea become poorly differentiated, withthe rods present more in the fovea and the cones distrib- uted away from the fovea. The foveal pit may be reduced or not even present, there is an absence of macular yellow pi rent, and the retinal vessels may cross through the macula. Another common feature of albinism: iris translucency. We usually can observe this easily in patients with oculocu- taneous albinism, even with minimal light levels shining into the eye, In some patients the iis may take on a pink or blue- pink hue that we can observe on external examination. ‘These patients are quite photophobic. The iris changes may not be so easily seen in patients with ‘cular albinism. These patients are often misdiagnosed with congenital motor nystagmus, Our patient had iris transillumi- nation defects but they were notas striking as they often are, Other features that are common with albinism include de- layed visual maturation, strabismus and photophobia. Be- «cause of the nystagmus and macular hypoplasia, many patients do not improve beyond 20/100 to 20/200, Parents often worry about whether their child can be ‘mainstreamed with normal-sighted children into regular classrooms. Optokinetic testing may help determine the prognosis, As you spin the OKN drum, normal-sighted indi viduals develop an optokinetic nystagmus. In patients with nystagmus, if you can superimpose the OKN over top of their nystagmus, or reverse the direction of the nystagmus with the OKN (as we did with our patient), the visual prog- ross for these children being mainstreamed into normal- sighted classes is very good. This can be extremely good and important news for worried parents. ‘We explained our patients diagnosis to the parents. We recommended an evaluation with a dermatologist and sug- gested thatthe child have a low vision exam in the near fu ture, a least before he tarts schoo. 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