A one-year-old male patient, five months old, suffered from strabismus.
It presents endotropia (15 degrees) and small hypertropia in the right eye (RE), the left eye (LE) is the dominant.
Visual acuity (VA) is low in the RE (worries when occluding the LE) and acceptable in the LE (looks and picks up small objects).
The luminous reflex on the cornea makes us suspect an eccentric fixation in both eyes.
The child had suffered febrile seizures.
Among the family history highlights that the mother had chickenpox when pregnant (between 16 and 18 weeks), and that a maternal uncle suffers Alport syndrome.
The anterior pole is normal.
In schistosomiasis the neutral point is +2 in both eyes.
Indirect ophthalmoscopy revealed oval lesions in both lesions, predominantly in the temporal half, suggestive of old median maccoroiditis with normal periphery.
In the RE it is larger, very pigmented and with white glial tissue in the center; the temporary arcades are curved towards the pathological zone, and there is temporary papilar.
In the IO there is a well-defined low retinochorionic dysplasia with normal retinal vessels and some choroids with pigmented hamstrings.
The child has no nystagmus or other ocular or systemic lesions.
The skull radiography is normal.
suspected intrauterine ocular infection, serology for TORCH (Toxoplasma acronym, Rubeola, Cytomegalovirus and Herpes), syphilis and commeningeal lymphocytic virus
Both are negative for toxoplasma (both IgG 0.14 IU/ml, by enzyme-linked immunosorbent, EIA).
Cytomegalovirus, negative child, low titer positive mother (Ig G 2.1 Index, EIA).
Herpes type I, negative child, positive mother with low titers (IgG 2 Index, by EIA).
Herpes type II, negative child, positive mother with low titers (IgG 2.39 Index, by EIA).
Varicella-zoster virus, negative child, positive mother with high titers (IgG 2.68 Index and IgM negative by EIA).
Syphilis, RPR negative mother and child.
Rubella, both positive when vaccinated (IgG 59.3 IU/ml, IgG mother 113.7 IU/ml, by AIS).
Lymphocyte choriomeningitis virus, both positive, but with low titers that are not significant (IgG 1/32, by indirect immunofluorescence).
All this allows ruling out an infectious etiology, since the antibodies of the child are not high, and leads us to think that it is a bilateral atypical macular coloboma.
As there are hereditary cases (1), the eye fundus is explored to their parents and siblings, they are all normal.
It can also be associated with hypercalciuria and hypomagnesemia (2), but in this case the calcium/creatinine index and magnesemia are within normal limits.
Subsequently, we followed the evolution up to three years of age, the VA in the RE is the perception of the LE, and in the LE is 0.2.
In visual evoked potentials, stimulation with luminous spectacles and authentication, there is a clear, detrimental effect in RE.
No penalty was proposed with patches for the large size of the coloboma of the RE.
It would be interesting to do an eye ultrasound, but it was decided to wait for the patient to be older and collaborate to perform it.
