PRIMARY CONGENITAL APHAKIA  

 

This condition results from failure of the optic vesicle to form a contact with the overlying surface ectoderm. The lens plate, and therefore the lens fail to form. This, in turn, does not induce formation of the anterior chamber, and sever ocular malformations are a consequence (1).

Secondary congenital aphakia occurs when the lens forms, but is resorbed, probably because of severe intrauterine trauma or infection.
 

 

REFERENCES
  1. Manschot WA. Primary congenital aphakia. Arch Ophthalmol 1963;69:71.

 

 

ANTERIOR CHAMBER ABNORMALITIES  

 

 

Slight lesions of the anterior chamber must be carefully looked for, because minor anterior chamber anomalies may be missed in routine ophthalmological investigations. Cataract and glaucoma are common complications occurring at a later age in some cases.

 

 

DIFFERNTIAL DIAGNOSIS

 

 

  1. Peters syndrome is an ocular disease resulting from a deficient cleavage of the anterior chamber of the eye, with a central defect of the posterior part of the cornea, a short anterior ocular chamber, adhesions running from the iris to the posterior fold of the cornea and an anterior polar cataract. PpS was defined by Van Schooneveld et al.( 1) as the association of these ocular malformations with multiple abnormalities and mental retardation. PpS has been reported extensively in the literature and recently reviewed by Maillette de Buy Wenniger-Prick et al. (2).

 

    • Craniofacial features:

                                                              i.      round face in infancy,

                                                            ii.      a prominent forehead (70%),

                                                          iii.      hypertelorism (76%),

                                                          iv.      narrow palpebral fissures (79%),

                                                            v.      a long philtrum (91%),

                                                          vi.      cupid's bow upper lips with a thin vermillion border (98%).

                                                        vii.      cleft lip occurs in 45% of cases.

                                                      viii.      Other symptoms are small and mildly dysmorphic prominent ears, preauricular pits (37%), narrow auditory canals, unilateral or bilateral ptosis, mild malar hypoplasia, micrognathia (44%) and a broad and sometimes webbed neck (73%). The lingual frenulum and lateral upper incisors may be absent or abnormally pointed. Facial hirsutism has also been described (2).

    • Ocular features:

                                                              i.      The Peters' anomaly is characterized by a central cornual opacity (leukoma), the absence of the posterior corneal stroma and of the membrane of Descemet and strands running from the iris and lens to the central posterior cornea.

                                                            ii.      Cataract and glaucoma are common complications occurring at a later age in some cases. Unusual symptoms are severe myopia, iris or retina coloboma, optic atrophy and microphthalmia (2).

    • Skeletal anomalies

                                                              i.      Short limbs and brachydactyly are invariably present (95%),

                                                            ii.      Broad hands (100%) and feet.

                                                          iii.      The elbows often show diminished motility, while other joints can be hyperextensible.

                                                          iv.      Marked clinodactyly of the fifth finger (91%),

                                                            v.      Mild subcutaneous syndactylies, proximally placed thumbs and deep creases in the foot soles may occur.

                                                          vi.      Other skeletal anomalies have been reported: pectus excavatum, a broad or a narrow thorax, hyperkyphosis, scoliosis, pes cavus. There are no specific radiological findings, but segmentation defects of the vertebral column or hemivertebrae, early arthritic changes of the spine, square pelvis with flat iliac crests and underdevelopment of the proximal radii may be seen (2).

 

 

    • Other occasional anomalies

 

                             Heart

                        Atrial or ventricular septal defects

Subvalvular aortic or pulmonary stenosis

Bicuspid pulmonary valve

                                  Genitourinary system

·         Hydronephrosis, renal or ureteral duplication

·         Renal hypoplasia with oligomeganephronia

·         Hypospadias, cryptorchidism, hypoplastic clitoris or labia majora

·         Rudimentary vagina and uterus

·         Ureteral orifice opening in vagina and anal stenosis

Hypoplastic adrenals

Soft skin and widely spaced nipples

Diastasis recti,

Umbilical and inguinal herniae

 

 

 

  1. Dwarfism Syndrome:

With ocular abnormalities:

·         SHORT (short stature, articular hyperextensibility, inguinal herniae, ocular Rieger's anomaly, dentition delay: autosomal-dominant disease)

·         Abbruzo-Erickson (flat face, broad and stuck-out ears, hypospadias, malar hypoplasia: autosomal-dominant disease)

·         GMS (aniridia, epicanthus, microcephaly, depressed nasal bridge, anti-mongoloid palpebral splits, mental retardation)

·         Weill-Marchesani (myopathy, metaphyseal abnormalities, brachydactyly, microphakia: autosomal-recessive disease)

·         Michels (blepharophimosis, ptosis, epicanthus, cleft palate, deafness: autosomal-recessive disease)

·         Rieger (iridal ectopy or polycoria, glaucoma, dental agenesis, maxillar hypoplasia, hypertelorism, umbilical hernia, omphalocele, anomalies of external genitalia, dystrophic myotonia: autosomal-dominant disease)

·         Walker-Warburg  Syndrome (hydrocephaly, optic atrophy, microphthalmia, pigmentary retinitis, agyria, agenesis of corpus callosum, mental retardation: autosomal-recessive disease)

 

           With abnormal facial profile

·         Cornelia de Lange syndrome.

·         Robinow syndrome.

·         Fetal alcohol syndrome.

 

 

 

 

REFERENCES

 

 

1.      Van Schooneveld MJ, Delleman JW, Beemer FA, Bleeker-Wagemakers EM. Peters'-plus: a new syndrome. Ophthalmic Paediatr Genet 1984; 4: 141-145.

2.       Maillette de Buy Wenniger-Prick LJ, Hennekam RC. The Peters' plus syndrome: a review. Ann Genet 2002; 45: 97-103.