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Brain imaging studies in Leber's congenital amaurosis: new radiologic findings associated with the complex trait.

Yang HK, Hwang JM, Park SS, Yu YS - Korean J Ophthalmol (2010)

Bottom Line: Brain magnetic resonance imaging was performed in 31 of 83 patients (37.3%).Two patients had cerebellar vermis hypoplasia, 1 patient showed an absence of septum pellucidum, 2 subjects showed mild external hydrocephalus, and 1 patient was found to have a small cerebellum.Approximately one fifth of the LCA patients in whom brain imaging was performed were associated with brain abnormalities, including the absence of septum pellucidum, which has not been documented in the literature.

View Article: PubMed Central - PubMed

Affiliation: Department of Ophthalmology, Seoul National University College of Medicine, Seoul, Korea.

ABSTRACT

Purpose: To report the incidence and new findings of abnormal brain imaging studies associated with patients initially diagnosed with Leber's congenital amaurosis (LCA) without definite systemic abnormalities and to determine the need for brain imaging studies in these patients.

Methods: A retrospective review of medical records was performed in 83 patients initially diagnosed as LCA and without definite systemic abnormalities before the age of 6 months in 2 tertiary referral centers. Brain magnetic resonance imaging was performed in 31 of 83 patients (37.3%).

Results: Six of 31 patients (19%) had radiologically documented brain abnormalities. Two patients had cerebellar vermis hypoplasia, 1 patient showed an absence of septum pellucidum, 2 subjects showed mild external hydrocephalus, and 1 patient was found to have a small cerebellum.

Conclusions: Approximately one fifth of the LCA patients in whom brain imaging was performed were associated with brain abnormalities, including the absence of septum pellucidum, which has not been documented in the literature. Brain imaging is mandatory in patients primarily diagnosed with LCA, even without definite neurologic or systemic abnormalities.

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Related in: MedlinePlus

The T2 weighted axial magnetic resonance imaging of a Leber's congenital amaurosis patient (case 1) shows the absence of the septum pellucidum, which should normally be present in the area indicated between the black arrows. The hemispheric fissure is intact and indicated by the white arrows.
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Figure 1: The T2 weighted axial magnetic resonance imaging of a Leber's congenital amaurosis patient (case 1) shows the absence of the septum pellucidum, which should normally be present in the area indicated between the black arrows. The hemispheric fissure is intact and indicated by the white arrows.

Mentions: A 4-month-old girl was referred for poor eye contact. She was delivered preterm at 35 weeks of gestation after an uneventful pregnancy. She was born from healthy non-consanguineous parents and had an unremarkable family history. The patient did not fixate with the eyes or follow objects. Esotropia and nystagmus were present. Slit lamp examination and fundus examination showed no significant findings. Cycloplegic refractive errors were -1.50 D sph = -3.00 D cyl × 180° OD, -3.50 D sph = -3.00 D cyl × 180° OS. ERG was extinguished in both eyes and she was diagnosed as LCA. Systemic evaluation for metabolic abnormalities, as well as of the kidney, liver, and skin were unremarkable. Genetic analysis of mutations in CRX, CRB1, GUCY2D, AIPL1, RDH12, RPE65, LRAT, RPGRIP1, and TULP1 were unremarkable. Development was within the normal limit and neurologic evaluation was unremarkable at the time of diagnosis. However, brain MRI showed a prominent enlargement in the subarachnoid space of both frontal convexities, and the septum pellucidum was absent. No focal lesions were present in the brain and the size of the corpus callosum and white matter myelination was normal. At the age of 15 months, a follow-up brain MRI was taken, and external hydrocephalus with absent septum pellucidum was stationary (Fig. 1). A diagnosis of septo-optic dysplasia was considered, however, normal appearance of the optic nerve and normal pituitary function left the diagnosis doubtful. Strabismus surgery was performed for an esotropia of 40 prism diopters (PD). At the age of 3 years, the patient could still not fixate with the eyes and nystagmus was present, while ocular alignment was orthotropic. Cognitive and motor development was moderately delayed approximately 10 months, yet was slowly improving. The patient's medical history was unremarkable for myoclonic seizure.


Brain imaging studies in Leber's congenital amaurosis: new radiologic findings associated with the complex trait.

Yang HK, Hwang JM, Park SS, Yu YS - Korean J Ophthalmol (2010)

The T2 weighted axial magnetic resonance imaging of a Leber's congenital amaurosis patient (case 1) shows the absence of the septum pellucidum, which should normally be present in the area indicated between the black arrows. The hemispheric fissure is intact and indicated by the white arrows.
© Copyright Policy - open-access
Related In: Results  -  Collection

License
Show All Figures
getmorefigures.php?uid=PMC2992564&req=5

Figure 1: The T2 weighted axial magnetic resonance imaging of a Leber's congenital amaurosis patient (case 1) shows the absence of the septum pellucidum, which should normally be present in the area indicated between the black arrows. The hemispheric fissure is intact and indicated by the white arrows.
Mentions: A 4-month-old girl was referred for poor eye contact. She was delivered preterm at 35 weeks of gestation after an uneventful pregnancy. She was born from healthy non-consanguineous parents and had an unremarkable family history. The patient did not fixate with the eyes or follow objects. Esotropia and nystagmus were present. Slit lamp examination and fundus examination showed no significant findings. Cycloplegic refractive errors were -1.50 D sph = -3.00 D cyl × 180° OD, -3.50 D sph = -3.00 D cyl × 180° OS. ERG was extinguished in both eyes and she was diagnosed as LCA. Systemic evaluation for metabolic abnormalities, as well as of the kidney, liver, and skin were unremarkable. Genetic analysis of mutations in CRX, CRB1, GUCY2D, AIPL1, RDH12, RPE65, LRAT, RPGRIP1, and TULP1 were unremarkable. Development was within the normal limit and neurologic evaluation was unremarkable at the time of diagnosis. However, brain MRI showed a prominent enlargement in the subarachnoid space of both frontal convexities, and the septum pellucidum was absent. No focal lesions were present in the brain and the size of the corpus callosum and white matter myelination was normal. At the age of 15 months, a follow-up brain MRI was taken, and external hydrocephalus with absent septum pellucidum was stationary (Fig. 1). A diagnosis of septo-optic dysplasia was considered, however, normal appearance of the optic nerve and normal pituitary function left the diagnosis doubtful. Strabismus surgery was performed for an esotropia of 40 prism diopters (PD). At the age of 3 years, the patient could still not fixate with the eyes and nystagmus was present, while ocular alignment was orthotropic. Cognitive and motor development was moderately delayed approximately 10 months, yet was slowly improving. The patient's medical history was unremarkable for myoclonic seizure.

Bottom Line: Brain magnetic resonance imaging was performed in 31 of 83 patients (37.3%).Two patients had cerebellar vermis hypoplasia, 1 patient showed an absence of septum pellucidum, 2 subjects showed mild external hydrocephalus, and 1 patient was found to have a small cerebellum.Approximately one fifth of the LCA patients in whom brain imaging was performed were associated with brain abnormalities, including the absence of septum pellucidum, which has not been documented in the literature.

View Article: PubMed Central - PubMed

Affiliation: Department of Ophthalmology, Seoul National University College of Medicine, Seoul, Korea.

ABSTRACT

Purpose: To report the incidence and new findings of abnormal brain imaging studies associated with patients initially diagnosed with Leber's congenital amaurosis (LCA) without definite systemic abnormalities and to determine the need for brain imaging studies in these patients.

Methods: A retrospective review of medical records was performed in 83 patients initially diagnosed as LCA and without definite systemic abnormalities before the age of 6 months in 2 tertiary referral centers. Brain magnetic resonance imaging was performed in 31 of 83 patients (37.3%).

Results: Six of 31 patients (19%) had radiologically documented brain abnormalities. Two patients had cerebellar vermis hypoplasia, 1 patient showed an absence of septum pellucidum, 2 subjects showed mild external hydrocephalus, and 1 patient was found to have a small cerebellum.

Conclusions: Approximately one fifth of the LCA patients in whom brain imaging was performed were associated with brain abnormalities, including the absence of septum pellucidum, which has not been documented in the literature. Brain imaging is mandatory in patients primarily diagnosed with LCA, even without definite neurologic or systemic abnormalities.

Show MeSH
Related in: MedlinePlus