E-ISSN: 1309-5749 | ISSN: 1018-8681 | Join E-mail List | Contact | Twitter
Oculocutaneous Albinism and Autism: A Case Report and Review of Literature
1Child and Adeloscent Psychiatrist, Karadeniz Technical University, Faculty of Medicine, Trabzon - Turkey
Dusunen Adam The Journal of Psychiatry and Neurological Sciences 2013; 2(26): 215-218 DOI: 10.5350/DAJPN2013260213
Full Text PDF


Autistic disorder is a highly heritable disorder characterized by impaired communication, social interaction, and repetitive behaviors. Several inherited medical and psychological disorders have been reported in association with childhood autism and many of these disorders shed light on the role of genetics in the etiology of childhood autism. Association of autism and oculocutaneous albinism is rarely reported in the literature. Herein, we report the joint occurrence of autistic disorder (AD) and oculocutaneous albinism (OCA) in a two-year and six-month old boy. This association was documented in a few previous reports about the affected individuals and families of individuals with childhood autism. All these reports and this case connote whether childhood autism has any genetic and clinical relationship with oculocutaneous albinism.


Autism, a neurodevelopmental disorder included in the category of pervasive developmental disorders, has a high heritability, and is characterized by severe and pervasive impairment in reciprocal socialization, qualitative impairment in communication, and repetitive or unusual behaviors (1,2). A variety of genetic mechanisms may be involved in the etiology of autism, e.g., single gene disorders, copy number variations and polygenic mechanisms (3). Clinical studies show that organic causes are involved in 11-37% of the autistic cases (4). Many disorders have been reported to be associated with childhood autism providing valuable information on its genetic etiology (5-7). Sometimes the autistic phenotype is a part of a broader genetic condition called syndromic autism (3,8-10). Hypomelanotic skin disorders with multiple systemic manifestations like tuberous sclerosis and hypomelanosis of Ito have been previously reported in association with childhood autism (11). 

Oculocutaneous albinism is a group of autosomal recessive disorders of melanin biosynthesis that is characterized by a generalized reduction in pigmentation of hair, skin and eyes (12). It is also a hypomelanotic skin disorder that may present with multiple systemic manifestations like photophobia, nystagmus and decreased visual acuity. It is seldom reported in association with childhood autism as opposed to tuberous sclerosis and hypomelanosis of Ito (11). Herein we report the joint occurrence of an autistic disorder and oculocutaneous albinism. When the words ‘oculocutaneous albinism’ and ‘autism’ searched in Pubmed, we saw that this association was documented in three previous reports (11,13,14). 


The patient was thirty months old when he was referred to child and adolescent psychiatry outpatient clinic with disinterest to others, lack of eye-to-eye contact and lack of speech. When he was fifteen months old, he began to count and call his mother’s name. He began to walk when he was 20 months. At that time he would not play with his peers. He avoided eye-to-eye contact and did not turn around when his name was called. Entourages were asking his mother if he is deaf or not. When he was twenty months of age his mother had a psychological trauma, so he experienced a period of time during which his father and other relatives took care of him. After this period, he stopped talking and saying the words he used to say. He was doing repetitive movements with his hands and spending too much time with colored objects. At the time of the examination he still had no meaningful words. He failed to reciprocate any social gestures. His family was not complaining of his behaviors as he was not shouting or screaming.

He had no serious medical disorder other than oculocutaneous albinism. Developmental impairments were restricted to the areas of communication and social interaction.

His mother and father were close relatives (offsprings of sister and brother). There were six more relatives of his father with oculocutaneous albinism. But none of them had any impairment in socialization and communication. 

Physical, Ophthalmologic, Psychiatric

Examination and Diagnostic Tests

His hair and skin were white, and his eyes were red. Other than bilateral horizontal nistagmus his neurologic examination was normal. The patient had photophobia but no strabismus. His biomicroscopic examination was also in normal limits. Some pathological findings were revealed by fundus examination which was performed under general anesthesia. Bilateral optic discs were hypoplastic and the epithelium of the retina was atrophic. He had decreased visual acuity.

He was disinterested to others. He wasn’t answering the questions asked and often appeared to be staring into an unseen object. His affect was dull. He was standing by his father and wasn’t paying attention during the interview. He didn’t show any interest to the toys in the policlinic. Sometimes he was joining his hands and shaking his fingers. Denver Developmental Screening Test II (15) was carried out. He was 3 years and 2 months old at the time of the evaluation. His personal–social development was at the fifteen and a half months level, fine motor-adaptive development at the twenty and a half months level, language development at the eleven and a half months level and gross motor development at the nineteen and a half months level. He had developmental delay in all developmental steps. 

His sleep EEG showed that cerebral bioelectric activity was in normal limits. There was no pathological finding in cranial MRI. His hearing was determined to be normal by evoked auditory potentials.

Diagnosis and Treatment

Based on the history taken from his family, physical examination and clinical interaction with the patient, diagnoses of oculocutaneous albinism and childhood autism were made based on ICD-10 (16). There was severe impairment in his social interaction and communication. He began to be followed at child and adolescent psychiatry, child neurology and ophthalmology outpatient clinics. Special education was offered for him. There was not any need for the initiation of a psychopharmacologic agent since he displayed no problematic behavior. 


When the presented case was twenty month-old, after his mother’s psychological trauma he had lost his mother’s care for a time. After this period he stopped talking and saying the words he used to say. This clinic may be seen in reactive attachment disorder also. But presences of disinterest to others before his mother’s illness make us not to think this diagnosis. 

Epidemiological studies of autistic twins showed that concordance rate is higher in monozygotic twins (69-95%) than in dizygotic twins (0-24%). These studies estimated the heritability of autism to be more than 90% (17-19). Hypomelanotic skin disorders with multiple systemic manifestations have been reported in association with childhood autism like tuberous sclerosis (7,20,21) and hypomelanosis of Ito (5,22). In order to gain a better understanding of the mechanism of these associations, Bakare and Ikegwuonu (11) emphasized the need for further studies on dysfunctional maturation and differentiation of ectodermal and mesodermal cell precursors during embryogenesis. 

The case had decreased visual acuity. Bilateral optic discs were hypoplastic. It is shown that children with optic nerve hypoplasia are at risk of social, communication, and repetitive/restrictive difficulties and clinical ASD (23).

Association of autism and oculocutaneous albinism is rarely reported in the literature. Rogawski et al. (13) reported such an association in two boys. Delong (14) described four families of individuals with childhood autism and noted the additional feature of oculocutaneous albinism in some families in addition to major affective disorder or psychotic disorder and special talents or intellectual abilities. He reported two OCA and autism cases in his study. Furthermore, he also reported two other autism cases with a possible but undiagnosed OCA: the first of these had abnormal eye movements and pale iris, and the second was a pale-looking individual with cotton-white hair and nystagmus. DeLong et al. (24) described a strong correlation among autism, bipolar disorder and special abilities in families of children with autism.

Bakare and Ikegwuonu (11) recently reported a 13 year-old Nigerian boy who had oculocutaneous albinism and autism. He was unable to develop speech and was incapable of verbal communication. He was only screaming when in distress or in need of attention (11). 

To the knowledge of the author, there is no other report except the three mentioned reports in the literature about this association. All these reports and this case may indicate a genetic and clinical relationship with oculocutaneous albinism and autism. These cases may provide useful clues to the genetic mechanism of a part of the autism spectrum disorders and may also help explain some of the eye movements and gaze abnormalities in individuals with autism, possibly through misdirection of optic nerve pathways (14). The frequency of autism-like symptoms in individuals with OCA has not been studied yet. Genetic studies may be carried out in OCA individuals with autism-like symptoms which may provide a better understanding of the etiology of autism.


1. Levy SE, Mandell DS, Schultz RT. Autism. Lancet 2009; 374:1627-1638.

2. Muhle R, Trentacoste SV, Rapin I. The genetics of autism. Pediatrics 2004; 113:472-486.

3. Steyaert J, de La Marche W. What’s new in autism? Eur J Pediatr 2008; 167:1091-1101.

4. Gillberg C, Coleman M. Autism and medical disorders. A review of the literature. Dev Med Child Neurol 1996; 38:191-202.

5. Artigas-Pallares J, Gabau-Vila E, Guitart-Feliubadalo M. Syndromic autism: II. Genetic syndromes associated with autism. Rev Neurol 2005; 40 (Suppl.1):155-162.

6. Zafeirion DI, Ververi A, Vargiami E. Childhood autism and associated co-morbidities. Brain Dev 2007; 29:257-172. 

7. Kielinen M, Rantala H, Timonen E, Linna SL, Moilanen I. Associated medical disorders and disabilities in children with autistic disorder: a population – based study. Autism 2004; 8:49-60.

8. Sebat J, Lakshmi B, Malhotra D, Troge J, Lese-Martin C, Walsh T, Yamrom B, Yoon S, Krasnitz A, Kendall J, Leotta A, Pai D,Zhang R, Lee YH, Hicks J, Spence SJ, Lee AT, Puura K, Lehtimäki T, Ledbetter D, Gregersen PK, Bregman J, Sutcliffe JS, Jobanputra V, Chung W, Warburton D, King MC, Skuse D, Geschwind DH, Gilliam TC, Ye K, Wigler M. Strong association of de novo copy number mutations with autism. Science 2007; 316:445-449.

9. Vorstman JA, Staal WG, Van Daalen E, van Engeland H, Hochstenbach PF, Franke L. Identification of novel autism candidate regions through analysis of reported cytogenetic abnormalities associated with autism. Mol Psychiatry 2006; 11:18-28.

10. Marshall CR, Noor A, Vincent JB, Lionel AC, Feuk L, Skaug J, Shago M, Moessner R, Pinto D, Ren Y, Thiruvahindrapduram B, Fiebig A, Schreiber S, Friedman J, Ketelaars CE, Vos YJ, Ficicioglu C, Kirkpatrick S, Nicolson R, Sloman L, Summers A, Gibbons CA, Teebi A, Chitayat D, Weksberg R, Thompson A, Vardy C, Crosbie V, Luscombe S, Baatjes R, Zwaigenbaum L, Roberts W, Fernandez B, Szatmari P, Scherer SW. Structural variation of chromosomes in autism spectrum disorder. Am J Hum Genet 2008; 82:477-488.

11. Bakare MO, Ikegwuonu NN. Childhood autism in a 13 year old boy with oculocutaneous albinism: a case report. J Med Case Reports 2008; 2:56.

12. Grønskov K, Ek J, Brondum-Nielsen K. Oculocutaneous albinism. Orphanet J Rare Dis 2007; 2:43.

13. Rogawski MA, Funderburk SJ, Cederbaum SD. Oculocutaneous albinism and mental disorder. A report of two autistic boys. Hum Hered 1978; 28:81-85.

14. Delong R. GABA (A) receptor alpha 5 subunit as a candidate gene for autism and bipolar disorder: a proposed endophenotype with parent -of-origin and gain-of-function features, with or without oculocutaneous albinism. Autism 2007; 11:135-147.

15. Delany EA, Hopkins TF. The Stanford-Binet Intelligence Scale: Fourth Edition, Examiner’s Handbook. Chicago, IL: The Riverside Publishing Co., 1986.

16. World Health Organization. International Classification of Diseases. Tenth Ed., (ICD-10), 1992.

17. Bailey A, Le Couteur A, Gottesman I, Bolton P, Simonoff E, Yuzda E, Rutter M. Autism as a strongly genetic disorder: evidence from a British twin study. Psychol Med 1995; 25:63-77. 

18. Folstein S, Rutter M. Infantile autism: a genetic study of 21 twin pairs. J Child Psychol Psychiatry 1977; 18:297-321. 

19. Steffenburg S, Gillberg C, Hellgren L, Andersson L, Gillberg IC, Jakobsson G, Bohman M. A twin study of autism in Denmark, Finland, Iceland, Norway and Sweden. J Child Psychol Psychiatry 1989; 30:405-416. 

20. Smalley SL. Autism and tuberous sclerosis. J Autism Dev Disord 1998; 28:407-414.

21. Gutierrez GC, Smalley SL, Tanguay PE. Autism in tuberous sclerosis complex. J Autism Dev Disord 1998; 28:97-103.

22. Ito MA. Singular case of naevus depigmentosus systematicus bilateralis. Jpn J Dermatol B 1951; 61:31-32.

23. Parr JR, Dale NJ, Shaffer LM, Salt AT. Social communication difficulties and autism spectrum disorder in young children with optic nerve hypoplasia and/or septo-optic dysplasia. Dev Med Child Neurol 2010; 52:917-921.

24. Delong GR, Ritch CR, Burch S. Fluoxetine response in children with autistic spectrum disorders: correlation with familial major affective disorder and intellectual achievement. Dev Med Child Neurol 2002; 44:652-659.

Okülokütenöz albinizm ve otizm: Olgu sunumu ve literatür derlemesi
1Çocuk ve Ergen Psikiyatrist, Karadeniz Teknik Üniversitesi, Tıp Fakültesi, Trabzon - Türkiye
Dusunen Adam The Journal of Psychiatry and Neurological Sciences 2013; 2(26): 215-218 DOI: 10.5350/DAJPN2013260213

Otistik bozukluk; iletişimde ve sosyal etkileşimde bozulmalara neden olan, ayrıca, tekrarlayıcı davranışlarla giden genetik yönü güçlü olan bir bozukluktur. Çok sayıda kalıtsal tıbbi ve psikolojik bozuklukla çocukluk çağı otizmi arasında ilişki olduğu bildirilmiş, bu bozuklukların çoğu, otizmin etiyolojisinde genetiğin rolü konusunda ışık tutmuştur. Literatürde, otizm ve okülokütanöz albinizm birlikteliği nadir olarak bildirilmiştir. Bu yazıda, otizm ve okülokütanöz albinizmi olan 2 yaş 6 aylık bir olgu sunulmuştur. Bu ilişki ve etkilenen kişilerin aile bireyleri ile ilgili daha önce yayınlanmış az sayıda bildiri mevcuttur. Tüm bu bildirimler ve sunulan olgu, çocukluk çağı otizmi ve okülokütanöz albinizm arasında genetik bir ilişkinin olup olmadığı düşüncesini akla getirmektedir.