Atypical presentation of cone

dystrophy
FP -

Presenting author : Aneesha Lobo (L14513)

Co- Authors : Rupak Roy, Kumar Saurabh, Debmalya Das

Financial Interest : None

 Introduction
• Cone dystrophies have a wide spectrum of presentation.
• Genetic diversity is responsible for this heterogeneous
appearance.

• Being an uncommon diagnosis, it may be

missed/misdiagnosed

• Misdiagnosed cases will receive wrong/ unnecessary

treatment
 Purpose
• To report a novel Spectral Domain Optical Coherence
Tomography (SD-OCT) presentation of cone dystrophy
 Materials and methods
• 45 year old male
• Dimness of vision in both eyes (OU) since 2 years
• Best corrected visual acuity 6/60 (Snellen)
• Color vision OU :10/21 (Ischihara’s chart)
• Systemic history : NAD
• Drug history :Nothing suggestive
• Anterior segment : OU WNL
 Fundus :

OD OS

Normal disc

Retinal pigment epithelial mottling

 • FFA: Window defect at the posterior pole

OD Early phase OS

OD Late phase OS
OCT –
•Selective photoreceptor layer loss corresponding to
the areas of the window defects
•Foveal cavities have sharp vertical edges,
Disrupt the inner segment/outer segment junction
but not the external limiting membrane.
Differential diagnosis :
• Cone dystrophy
• Chronic/ resolving CSR
• Toxic maculopathy
• Closed FTMH
ERG- Full field electroretinogram showed

Normal scotopic
responses

Photopic responses
reduced
 Discussion
• The advent of SD-OCT allows in vivo analysis of the
retinal architecture.

• Cone dystrophies can present as a focal loss of

subfoveal photoreceptors which can be appreciated on
SD-OCT (Foveal cavitation) (1)

• Although not specific for cone dystrophies, this novel

OCT finding may aid in clinching an uncommon and
difficult diagnosis (2)
1.T Leng, M F. Marmor, U Kellner, D A. Thompson, A B. Renner,W Moore, J C. Sowden.
Foveal cavitation as an optical Coherence tomography finding in
Central cone dysfunction Retina2012;32:1411–1419.
2. Luiz H. Lima, J M. F. Sallum, R F. Spaide. Outer retina analysis by optical Coherence
tomography in Cone-rod dystrophy patients.Retina 2013;33:1877–1880.
• Electrophysiological studies are the gold standard for
diagnosis of cone-rod dystrophies(2)
• However the test is not widely available and is
cumbersome and time consuming
• SD- OCT provides a non invasive and easy assessment
of the photoreceptors.
• With time, a correlation between the OCT picture and
genotype may also be found. (3)

3.Wolfing JI, Chung M, Carroll J, Roorda A, Williams DR. Highresolution

retinal imaging of cone-rod dystrophy. Ophthalmology
2006;113:1014-9
 Conclusion
• Cone – rod dystrophy may present as selective
photoreceptor layer loss on SD-OCT.
• Knowledge of this novel OCT finding may help in early
diagnosis of this uncommon condition.
• Avoids misdiagnosis and wrong treatment.
• SD- OCT may become on par with ERG for diagnosis of
cone rod dystrophy.