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Case Reports
. 2011 Nov-Dec;59(6):509-12.
doi: 10.4103/0301-4738.86327.

Ocular manifestations in the Hutchinson-Gilford progeria syndrome

Shivcharan L Chandravanshi  1 , Ashok Kumar Rawat, Prem Chand Dwivedi, Pankaj Choudhary
Affiliations
Case Reports

Ocular manifestations in the Hutchinson-Gilford progeria syndrome

Shivcharan L Chandravanshi et al. Indian J Ophthalmol. 2011 Nov-Dec.

Abstract

The Hutchinson-Gilford progeria (HGP) syndrome is an extremely rare genetic condition characterized by an appearance of accelerated aging in children. The word progeria is derived from the Greek word progeros meaning 'prematurely old'. It is caused by de novo dominant mutation in the LMNA gene (gene map locus 1q21.2) and characterized by growth retardation and accelerated degenerative changes of the skin, musculoskeletal and cardiovascular systems. The most common ocular manifestations are prominent eyes, loss of eyebrows and eyelashes, and lagophthalmos. In the present case some additional ocular features such as horizontal narrowing of palpebral fissure, superior sulcus deformity, upper lid retraction, upper lid lag in down gaze, poor pupillary dilatation, were noted. In this case report, a 15-year-old Indian boy with some additional ocular manifestations of the HGP syndrome is described.

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Figures

Figure 1
Figure 1
External photograph of a 15-year-old Hutchinson-Guilford progeria male patient (A) showing disproportionately small face in comparison to the head, micrognathia, prominent eyes, both upper eyelids’ retraction, beaked nose, thin lips. (B) Prominent scalp veins, alopecia with grey and sparse hairs, and protruding ears with absent earlobe
Figure 2
Figure 2
(A) Upper jaw dental crowding and dental caries (B) Lower jaw dental crowding and dental caries
Figure 3
Figure 3
Prominent joints of hand (red arrow: metacarpophalangeal joints, blue arrow: interphalangeal joints) with loss of subcutaneous fat, nail dystrophy and sclerodematous skin
Figure 4
Figure 4
(A) X-ray hand showing radiolucent terminal phalanges (white arrow) and osteoporotic changes (black arrow). (B) X-ray shoulder joint showing dystrophic and short clavicle (white arrow)
Figure 5
Figure 5
(A) Both upper lids lag in down gaze, superior sulcus deformity, loss of eyelashes and eyebrows. (B) Lagophthalmos
See this image and copyright information in PMC

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