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oculocutaneous albinism is a group of autosomal recessive disorders featuring hypopigmentation of the hair , skin and eyes .
ocular signs associated with the disease are nystagmus , decreased visual acuity , hypopigmentation of the retina , foveal hypoplasia , translucency of the iris , macular transparency , photophobia and abnormal decussation of nerve fibers at the chiasm .
an 8-year - old caucasian girl presented to our clinic  referral center for hereditary retinopathies of the second university of naples with a diagnosis of stargardt disease and a progressive reduction in visual acuity in both eyes .
she underwent a complete ophthalmic examination including standard electroretinography and optical coherence tomography ( oct ) .
best - corrected visual acuity was 20/30 in the right eye and 20/40 in the left eye .
biomicroscopy of the anterior segment revealed a transparent cornea , in situ and transparent lens and normally pigmented iris .
the typical oct pattern led us to direct the molecular analysis towards the genes involved in oculocutaneous albinism .
in this case , the role of oct was crucial in guiding the molecular analysis for the diagnosis of albinism .
oct is therefore instrumental in similar cases that do not present typical characteristics of a disease .
the case also proves the relevance of molecular analysis to confirm clinical diagnoses in hereditary retinal diseases .
oculocutaneous albinism ( oca ) is a group of autosomal recessive disorders featuring hypopigmentation of the hair , skin and eyes .
, four types of oca ( oca14 ) , attributed to mutations in tyr , oca2 , tyrp1 and matp , respectively , have been identified .
ocular signs associated with the disease are nystagmus , decreased visual acuity , hypopigmentation of the retina , foveal hypoplasia , translucency of the iris , macular transparency , photophobia and abnormal decussation of nerve fibers at the chiasm .
this article describes an atypical case of oca in which the use of optical coherence tomography ( oct ) was crucial for establishing the diagnosis .
an 8-year - old caucasian girl presented to our clinic  referral center for hereditary retinopathies of the second university of naples .
the patient complained of a progressive reduction in visual acuity in both eyes , leading to the diagnosis of stargardt disease .
her past medical history was significant for exotropia and visual acuity impairment . on examination , visual acuity was 20/30 in the right eye and 20/40 in the left eye .
biomicroscopy of the anterior segment revealed a transparent cornea , in situ and clear lens and normally pigmented iris in both eyes .
a slightly diffuse depigmentation in the midperiphery and a pinkish optic disk with clear margins and mild macular dystrophy at the posterior pole were observed at fundus examination .
oct revealed the absence of normal foveal depression ( foveal thickness was 295 m in the right eye and 299 m in the left eye ; normal range 168239 m ) and of the small elevation of the inner segment / outer segment junction in the fovea .
furthermore , the high reflectivity across the fovea suggested a persisting nerve fiber layer and multiple inner retinal layers across the fovea ( fig .
1 ) . hence , all oct findings were in contrast with the diagnosis of juvenile macular dystrophy [ 2 , 3 ] .
the clinical pattern of foveal hypoplasia revealed by oct was instead similar to that observed in albinism [ 4 , 5 ] , even if the patient featured normal pigmentation of the skin , hair and iris ( fig .
2 ) and did not show typical ocular albinism signs such as nystagmus and iris transillumination . a molecular analysis
was then performed on the genes involved in albinism and revealed the presence of r402q and 1177delg mutations in the tyr gene .
written consent was obtained from the patient for the publication of this case report and the accompanying images .
a copy of the written consent is available for review by the editor - in - chief of this journal .
oct has been shown to provide detailed morphometric information on retinal structure and to be an important tool for the diagnosis and follow - up of diseases such as age - related macular degeneration , choroidal neovascularization and macular edema [ 6 , 7 , 8 ] . in recent years
, the use of this technique has been applied to other types of retinal diseases aiding in the differential diagnosis of hereditary retinal dystrophies . today
, oct has become an important examination method for the diagnosis and follow - up of retinitis pigmentosa and its complications   and can be considered a marker in cases of stargardt disease [ 2 , 3 and albinism [ 4 , 5 ] . in this case report
oct can therefore be considered an important diagnostic tool in cases that do not present typical ocular and cutaneous characteristics of a disease .
in fact , oct showed a thicker fovea in our patient compared to the general population , which may be due to the absence of a foveal pit as part of foveal hypoplasia associated with oca .
moreover , the oct images revealed the absence of the small elevation of the inner segment / outer segment junction in the fovea and the persistence of a nerve fiber layer and multiple inner retinal layers across the fovea ; these two features may be explained by the foveal hypoplasia as previously described in the studies by craft et al .   and chong et al .   relating these features to foveal hypoplasia in oca patients .
our case also proves the relevance of molecular analysis to confirm clinical diagnoses in hereditary retinal diseases .
furthermore , the phenotype described in this report suggests that patients affected by oca associated with r402q and 1177delg tyr gene mutations may present less severe clinical manifestations including good visual acuity , absence of nystagmus and an evident iris , skin and hair pigmentation . in conclusion
, this case confirms the relevance of oct in the diagnosis of hereditary retinal dystrophies , providing characteristic patterns that can be considered reliable disease markers .
backgroundoculocutaneous albinism is a group of autosomal recessive disorders featuring hypopigmentation of the hair , skin and eyes . 
 ocular signs associated with the disease are nystagmus , decreased visual acuity , hypopigmentation of the retina , foveal hypoplasia , translucency of the iris , macular transparency , photophobia and abnormal decussation of nerve fibers at the chiasm.case reportan 8-year - old caucasian girl presented to our clinic  referral center for hereditary retinopathies of the second university of naples with a diagnosis of stargardt disease and a progressive reduction in visual acuity in both eyes . 
 she underwent a complete ophthalmic examination including standard electroretinography and optical coherence tomography ( oct ) . 
 a molecular analysis was also performed . 
 best - corrected visual acuity was 20/30 in the right eye and 20/40 in the left eye . 
 biomicroscopy of the anterior segment revealed a transparent cornea , in situ and transparent lens and normally pigmented iris . 
 a mild diffuse depigmentation and macular dystrophy were observed at fundus examination . 
 standard electroretinography showed normal scotopic and photopic responses . 
 oct revealed high reflectivity across the fovea without depression . 
 the typical oct pattern led us to direct the molecular analysis towards the genes involved in oculocutaneous albinism . 
 the molecular analysis identified mutations in the tyr gene.conclusionin this case , the role of oct was crucial in guiding the molecular analysis for the diagnosis of albinism . 
 oct is therefore instrumental in similar cases that do not present typical characteristics of a disease . 
 the case also proves the relevance of molecular analysis to confirm clinical diagnoses in hereditary retinal diseases .