|Year : 2023 | Volume
| Issue : 1 | Page : 84-85
Syndromic Cherry – Goldberg Cotlier syndrome
Megha Gulati1, Rohit Dureja2, Marina Ger1, Bhavik Panchal1
1 Vitreoretina and Uveitis Services, L. V. Prasad Eye Institute, Visakhapatnam, India
2 Cornea and Anterior Segment Services, L. V. Prasad Eye Institute, Visakhapatnam, India
|Date of Submission||25-Jul-2022|
|Date of Acceptance||31-Aug-2022|
|Date of Web Publication||20-Jan-2023|
H. No 43, Sector 14, Sonipat - 131 001, Haryana
Source of Support: None, Conflict of Interest: None
The cherry-red spot in typical central retinal artery occlusion occurs because of the reddish color of the vascular choroid and retinal pigment epithelium seen through the foveola while the adjacent inner retina is opacified. We report a case of a bilateral pseudo-cherry-red spot in association with conjunctival telangiectasia and corneal posterior stromal clouding.
Keywords: Cherry-red spot, galactosialidosis, Goldberg–Cotlier syndrome
|How to cite this article:|
Gulati M, Dureja R, Ger M, Panchal B. Syndromic Cherry – Goldberg Cotlier syndrome. Indian J Ophthalmol Case Rep 2023;3:84-5
A cherry-red spot is not a disease but an ophthalmoscopic finding that can act as a window to systemic disease. It occurs due to the prominence of the fovea caused by the opacification of the surrounding inner retinal opacification due to various causes. It can be seen in various sight- and life-threatening conditions such as inner retinal ischemia, ocular drug toxicity, and lysosomal storage disorders. Because causes are not limited to the eye, multisystem and multispecialty involvement is essential.
| Case Report|| |
A 42-year-old male patient who had difficulty doing near work since 6 months came to our outpatient department (OPD) with best-corrected visual acuity (BCVA) of 20/25 N06 in both eyes. General examination and systemic examination were essentially normal with no significant family history. Ocular examination showed two small bright red conjunctival pinpoint lesions in the right eye nasal bulbar conjunctiva suggestive of conjunctival telangiectasia [Figure 1]a. Cornea had a mild diffuse posterior stromal haze from limbus to limbus in both eyes with a clear epithelium and anterior stroma [Figure 1]b. Fundus examination showed clear media with normal appearing disc and retinal vessels. Macula had a characteristic doughnut-shaped 1.5-DD whitening perifoveally symmetrically in both the eyes with fovea getting prominent as cherry red [Figure 1]c and [Figure 1]d.
|Figure 1: (a) Slit-lamp photograph of the right eye showing reddish dot-like lesions on nasal bulbar conjunctiva, representing conjunctival telangiectasia. (b) Slit-lamp photograph of the right eye showing diffuse posterior stromal clouding from limbus to limbus on slit beam. (c and d) Right (c) and left eye (d) fundus photograph showing bilateral symmetrical perifoveal whitening with prominent foveola – cherry-red spot|
Click here to view
Outcome and follow-up
In view of suspected lysosomal storage disease, the patient was referred to an endocrinologist for further evaluation, treatment options, and family screening. On the 6-month follow-up, the ocular examination was similar to that in the previous visit, with no change in visual acuity, conjunctival telangiectasia, corneal stromal haze, and a cherry-red spot at the macula. The need for long-term follow-up was explained to the patient, and he was counseled about guarded visual prognosis in the future.
| Discussion|| |
Finding a cherry-red spot at the macula makes us get scared for a moment as it is characteristically associated with central retinal artery occlusion. Finding a bilateral symmetrical picture with good visual acuity makes us think of a syndromic picture as there are some other conditions that can mimic a similar clinical picture.
The triad of conjunctival telangiectasia, posterior stromal clouding, and cherry-red spot is termed Goldberg–Cotlier syndrome,, which is an autosomal recessive disorder due to beta-galactosidase deficiency and can also be associated systemically with mental retardation, seizures, coarse facies, short stature, skin hemangiomas, hearing loss, and cardiac valvular disease.
Galactosialidosis is a lysosomal storage disorder in which abnormal lysosomal lipid gets deposited in the ganglion cell layer, causing its opacification [Figure 2]. The foveola is devoid of the ganglion cell layer and hence remains transparent and allows transmission of the color of the choroid and the retinal pigment epithelium (RPE). With age, as ganglion cells undergo degeneration, the cherry-red spot extinguishes and disc pallor sets in.,,
|Figure 2: Optical coherence tomography horizontal scan of the right eye passing through fovea showing increased reflectivity of ganglion cell layer around the fovea with no increase in thickness|
Click here to view
| Conclusion|| |
Ocular examination due to its visible vascular and neuronal tissue can sometimes act as a window to aid in systemic diagnosis and evaluation. A cherry-red spot is not a disease but an ophthalmoscopic finding that can act as a window to systemic disease. Lysosomal storage disorders can present with a bilateral cherry-red spot. The triad of conjunctival telangiectasia, corneal posterior stromal clouding, and cherry-red spot is termed Goldberg–Cotlier syndrome.
Declaration of patient consent
The authors certify that they have obtained all appropriate patient consent forms. In the form the patient(s) has/have given his/her/their consent for his/her/their images and other clinical information to be reported in the journal. The patients understand that their names and initials will not be published and due efforts will be made to conceal their identity, but anonymity cannot be guaranteed.
Financial support and sponsorship
Conflicts of interest
There are no conflicts of interest.
| References|| |
Goldberg MF, Cotlier E, Fichenscher LG, Kenyon K, Enat R, Borowsky SA. Macular cherry-red spot, corneal clouding, and β-galactosialidase deficiency. Arch Intern Med 1971;128:387-98.
Ospina LH, Lyons CJ, McCormick AQ. “Cherry-red spot” or “perifoveal white patch” Can J Ophthalmol 2005;40:609-10.
Fukuyo H, Inoue Y, Takahashi H, Hatano Y, Shibuya T, Sakai N, et al
. Galactosialidosis type IIb with bilateral macular Cherry-Red spots but mild dysfunction. Ophthalmol 2020;11:306-14.
Johnston MV. Neurodegenerative disorders of childhood; Spingolipidoses. In: Behrman RE, Kliegman RM, Jenson HB, editors
. Nelson's Textbook of Pediatrics. 17th
ed. WB Saunders: Philadelphia; 2004. p. 2029-35.
Kanski JK. Hereditary Fundus dystrophies. In: Kanski JK, Menon J, editors
. Clinical Ophthalmology, A Systematic Approach. 5th
ed. Butterworth Heinemann: Philadelphia; 2003. p. 487-515.
[Figure 1], [Figure 2]