Coldman-Faver syndrome (Enhanced S-cone syndrome)

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Patient L.V. 4-year-old born from the second pregnancy. His mother has a myopia of 7.0D, two of her ribs are fused together (synostosis). Mother has a mutational gene — MTHFR: 677C> T (Ala222Val), which can cause fetal malformations. This study was conducted in Russia.

Child’s great grandmother from maternal side has an inborn absence of the left limb (forearm). She also had problems with eyesight. The patient and his mother have dyskinesia of the bile duct.

Parents observed that the child had low vision since birth. He looked at objects from near dıstance . Since he was 2 years old, parents began to notice deviation of the left eye to the inside (Figure 1).IMG_2489

Fig.1.

The patient has severe photophobia, as well as difficulty orientating in the dark.

Patient was diagnosed with macular degeneration and then atrophy of the optic nerves and was prescribed glasses.

On admission: Upon evaluation of his eyes, visual acuity of the right eye was 0.2 (20/100) with no correction and left eye was 0.1 (20/200) with no correction.

During direct view, the left eyeball deviates to the inside by 30 PD. The angle of the primary deviation is equal to the angle of the secondary one. Movement of eyeballs are preserved in full.

Refraction is hypermetropia with astigmatism of 0.75D. The optical media are transparent.

The crystalline lens is transparent, none of the pronounced filamentous obstructions are seen in the vitreous body.

Fundus examination shows a wide area of retinoschisis.(Figure 2) Retinal vessels are not changed.

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Fig. 2.

Peripheral retina is not changed, and no bony bodies are observed.

These electro-retinograms are shown in Figures 3-4.

ERG-1

Fig. 3. The amplitude of congenital ERG is moderately reduced (latency within normal limits)

ERG-2

Fig. 4. The amplitude of the maximum ERG of both eyes is significantly reduced (latency within normal limits)

The SD-OCT image of the right eye shows foveal thickness of the retina being thin and foveoschisis, mainly in the internal nuclear layer. The ellipsoidal and interconnected zone of the cones are not traced in this photograph. All other layers of the retina are relatively preserved (Figure 5-6).

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Fig. 5. SD-OCT of the right eye

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Fig. 7. SD-OCT of the left eye

The SD-OCT image of the left eye shows foveal thickness of the retina being thin and foveoschisis, mainly in the internal nuclear layer. The ellipsoidal cone zone and the outer border membrane are not traced in this photograph. The disturbed structure of the interconnected zone of the cones is visible. All other layers of the retina are relatively preserved (Figure 5)

 

Considering all these signs, completely coinciding with the description above, the child was diagnosed with the Goldmann-Favre syndrome (Goldmann-Favre). It was decided that he be refrained from treatment. Prescribed glasses with a 50% photochromic effect and dynamic observation of the patient were recommended .

In addition, it is interesting to trace the influence of one or two genes upon the development of anomalies in relatives. depending on the environment where the gene is located, these congenital pathology probably arise: lack of an arm, fused ribs or Goldman-Favre syndrome.

In our practice, there was a case where the father had a congenital pathology of the retina «Angioid retinal bands (Grenblad-Strandberg syndrome)», and daughter had Retinitis pigmentosa. In this case, the same gene, depending apparently on the environment in which it was developed, pronounced various pathological diseases of the retina. Thus, in this clinical case, which is accompanied by extensive retinoschisis in children, suggests the presence of Goldmann-Favre syndrome and of course additional research will also help to put an accurate diagnosis.

Published by R.V. Hajiyev and Kasimova L.A. on Oftalmologiya 2017, № 3, (24)

http://oftalmologiya.az/journal/articles/2017/25/123-126.pdf

 

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