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Retinal vascular abnormality in Poland’s syndrome
  1. FRANCISCO GOMEZ-ULLA
  1. Servicio de Oftalmologia, Facultad de Medicina, Complejo Hospitalario Universitario de Santiago, E-15705 Santiago de Compostela, Spain
  2. Servicio de Oftalmologia and Departamento de Fisiologia, Facultad de Medicina, Complejo Hospitalario Universitario de Santiago
  3. E-15705 Santiago de Compostela, Spain
  1. FRANCISCO GONZALEZ
  1. Servicio de Oftalmologia, Facultad de Medicina, Complejo Hospitalario Universitario de Santiago, E-15705 Santiago de Compostela, Spain
  2. Servicio de Oftalmologia and Departamento de Fisiologia, Facultad de Medicina, Complejo Hospitalario Universitario de Santiago
  3. E-15705 Santiago de Compostela, Spain
  1. Dr Francisco Gomez-Ulla or Dr Francisco Gonzalez, Servicio de Oftalmologia, Complejo Hospitalario Universitario de Santiago, c/Galeras s/n E-15705 Santiago de Compostela, Spain.

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Editor,—Poland’s syndrome is a congenital anomaly first described in 18411 consisting of unilateral hypoplasia or aplasia of the pectoralis major muscle and ipsilateral upper extremity abnormalities which often include ipsilateral syndactyly. Since then a number of associated anomalies have been reported. These include absence of the pectoralis minor muscle, absence or atrophy of ipsilateral ribs two to five, aplasia of the ipsilateral breast or nipple, and simian crease of the affected extremity. Although vascular alterations associated with this syndrome have been described,2 no involvement of eye vasculature has been reported so far.

CASE REPORT

We examined a 39 year old man previously diagnosed with Poland’s syndrome who came to our clinic because he had experienced blurred vision in the right eye for 2 months. Computed axial tomography, arteriography, and abdominal echography revealed absence of the left kidney. There was no history of diabetes or hypertension. The ophthalmological examination of the right eye revealed a visual acuity of 20/50 and a paracentral relative scotoma. The right eye fundus showed perimacular capillary telangiectasis, retinal vascular distortion, moderate perimacular hard exudates, and retinal swelling, all of them more prominent in the temporal perimacular area. Fluorescein angiography clearly showed the vascular abnormalities (Fig1). The left eye fundus was normal. A diagnosis of juxtafoveal retinal telangiectasis3 was made.

Figure 1

Early venous phase fluorescein angiogram of the right eye, macular area. Note the easily visible telangiectatic retinal capillaries (arrows). These abnormal vessels showed significant leakage of fluorescein in the late phase of the angiogram.

COMMENT

Juxtafoveal telangiectasis is difficult to detect ophthalmoscopically4 and therefore can be neglected by routine eye fundus examinations made before the first visual symptoms appear. Unilateral renal agenesia occurs in approximately 1 per 1000 births and can be associated with vascular anomalies.5

The aetiology of juxtafoveal telangiectasis is unknown. The patient we examined had retinal vascular malformations that may have originated in the early stages of life. Indeed, the deformed capillaries may function for many years before endothelial decompensation causes retinal swelling.3 While the exact pathogenesis of Poland’s syndrome is not well known, it has been postulated that the original cause may be a vascular abnormality at the embryonic stages.6 The vascular abnormalities, mostly of the diseased hemithorax, reported in this syndrome2 and our finding of retinal vascular abnormalities in this patient support this hypothesis.

To our knowledge, this is the first reported case of coexistent juxtafoveal telangiectasis, renal agenesis, and Poland’s syndrome. Although we are not aware of direct evidence reported in the literature indicating any retinal involvement linked to this syndrome, it is plausible that the three anomalies found in this patient may had have common original vascular causative factors. Therefore, we recommend a careful eye fundus examination of patients presenting with this syndrome.

Acknowledgments

This work was partially supported by grants XUGA-20802B97 and DGESIC PB97–0521.

References

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