Limits...
Aicardi syndrome: the importance of an ophthalmologist in its diagnosis.

Shah PK, Narendran V, Kalpana N - Indian J Ophthalmol (2009 May-Jun)

Bottom Line: Aicardi syndrome is a rare genetic disorder.Of these three, chorioretinal lacunae is the most constant feature present.This case highlights the importance of fundus findings by an ophthalmologist in making the diagnosis of this rare syndrome.

View Article: PubMed Central - PubMed

Affiliation: Pediatric Retina Department, Postgraduate Institute of Ophthalmology, Coimbatore, Tamilnadu, India. drshahpk@vsnl.net

ABSTRACT
Aicardi syndrome is a rare genetic disorder. The salient features of this syndrome include agenesis of corpus callosum, chorioretinal lacunae and infantile spasms. Of these three, chorioretinal lacunae is the most constant feature present. This case highlights the importance of fundus findings by an ophthalmologist in making the diagnosis of this rare syndrome.

Show MeSH

Related in: MedlinePlus

Retcam photo of right eye shows optic disc coloboma (black arrow) and dome shaped loci of pale areas with sharp borders nasal to the optic disc suggestive of chorio retinal lacunae (white arrows).
© Copyright Policy - open-access
Related In: Results  -  Collection

License
getmorefigures.php?uid=PMC2683450&req=5

Figure 0001: Retcam photo of right eye shows optic disc coloboma (black arrow) and dome shaped loci of pale areas with sharp borders nasal to the optic disc suggestive of chorio retinal lacunae (white arrows).

Mentions: On examination, there was global developmental delay. The head circumference was in 10th percentile. On ophthalmic examination the child was neither responding to nor following bright light. Both the pupils were very sluggish in reaction. Anterior segments of both eyes were normal. The vitreous was clear and normal in both eyes. Fundus examination revealed bilateral optic nerve colobomas with variable-sized discrete dome-shaped loci of pale areas with sharp borders (chorioretinal lacunae) just nasal to the optic discs [Fig. 1a, 1b]. The fovea was spared in both the eyes.


Aicardi syndrome: the importance of an ophthalmologist in its diagnosis.

Shah PK, Narendran V, Kalpana N - Indian J Ophthalmol (2009 May-Jun)

Retcam photo of right eye shows optic disc coloboma (black arrow) and dome shaped loci of pale areas with sharp borders nasal to the optic disc suggestive of chorio retinal lacunae (white arrows).
© Copyright Policy - open-access
Related In: Results  -  Collection

License
Show All Figures
getmorefigures.php?uid=PMC2683450&req=5

Figure 0001: Retcam photo of right eye shows optic disc coloboma (black arrow) and dome shaped loci of pale areas with sharp borders nasal to the optic disc suggestive of chorio retinal lacunae (white arrows).
Mentions: On examination, there was global developmental delay. The head circumference was in 10th percentile. On ophthalmic examination the child was neither responding to nor following bright light. Both the pupils were very sluggish in reaction. Anterior segments of both eyes were normal. The vitreous was clear and normal in both eyes. Fundus examination revealed bilateral optic nerve colobomas with variable-sized discrete dome-shaped loci of pale areas with sharp borders (chorioretinal lacunae) just nasal to the optic discs [Fig. 1a, 1b]. The fovea was spared in both the eyes.

Bottom Line: Aicardi syndrome is a rare genetic disorder.Of these three, chorioretinal lacunae is the most constant feature present.This case highlights the importance of fundus findings by an ophthalmologist in making the diagnosis of this rare syndrome.

View Article: PubMed Central - PubMed

Affiliation: Pediatric Retina Department, Postgraduate Institute of Ophthalmology, Coimbatore, Tamilnadu, India. drshahpk@vsnl.net

ABSTRACT
Aicardi syndrome is a rare genetic disorder. The salient features of this syndrome include agenesis of corpus callosum, chorioretinal lacunae and infantile spasms. Of these three, chorioretinal lacunae is the most constant feature present. This case highlights the importance of fundus findings by an ophthalmologist in making the diagnosis of this rare syndrome.

Show MeSH
Related in: MedlinePlus